Canonical Allele Identifier: CA346820215

Gene: NRXN1

Linked Data

• gnomAD v4: 2-50055044-C-A
• MyVariant Identifiers: chr2:g.50282182C>A (hg19) ; chr2:g.50055044C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.50055044C>A , CM000664.2:g.50055044C>A	GRCh38
NC_000002.11:g.50282182C>A , CM000664.1:g.50282182C>A	GRCh37
NC_000002.10:g.50135686C>A	NCBI36
NG_011878.1:g.982493G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401669.7:c.3719G>T MANE Select	ENSP00000385017.2:p.Gly1240Val
ENST00000637889.1:n.886G>T
ENST00000637906.1:c.606-1454G>T	ENSP00000490198.1:n.606-1454G>T
ENST00000342183.9:c.614-1454G>T	ENSP00000341184.5:n.614-1454G>T
ENST00000401669.6:c.3719G>T	ENSP00000385017.2:p.Gly1240Val
ENST00000401710.5:c.614G>T	ENSP00000385580.2:p.Gly205Val
ENST00000404971.5:c.3839G>T	ENSP00000385142.1:p.Gly1280Val
ENST00000405472.7:c.3683G>T	ENSP00000434015.2:p.Gly1228Val
ENST00000406316.6:c.3719-1454G>T	ENSP00000384311.2:n.3719-1454G>T
ENST00000611589.4:c.-119-1454G>T	ENSP00000483634.1:n.-119-1454G>T
ENST00000625672.2:c.3695G>T	ENSP00000485887.1:p.Gly1232Val
ENST00000628364.2:c.614G>T	ENSP00000485815.1:p.Gly205Val
ENST00000630543.2:c.3695G>T	ENSP00000486879.1:p.Gly1232Val
ENST00000635264.1:n.528G>T
NM_001135659.1:c.3839G>T	NP_001129131.1:p.Gly1280Val
NM_004801.4:c.3719-1454G>T	NP_004792.1:n.3719-1454G>T
NM_138735.2:c.614-1454G>T	NP_620072.1:n.614-1454G>T
XM_005264642.2:c.3740G>T	XP_005264699.1:p.Gly1247Val
XM_005264643.2:c.3695G>T	XP_005264700.1:p.Gly1232Val
XM_006712137.2:c.3740-1454G>T	XP_006712200.1:n.3740-1454G>T
XM_006712140.2:c.3740G>T	XP_006712203.1:p.Gly1247Val
XM_011533167.1:c.3740G>T	XP_011531469.1:p.Gly1247Val
XM_011533168.1:c.3737G>T	XP_011531470.1:p.Gly1246Val
XM_011533169.1:c.3728G>T	XP_011531471.1:p.Gly1243Val
XM_011533170.1:c.3722G>T	XP_011531472.1:p.Gly1241Val
XM_011533171.1:c.3719G>T	XP_011531473.1:p.Gly1240Val
XM_011533172.1:c.3713G>T	XP_011531474.1:p.Gly1238Val
XM_011533173.1:c.3710G>T	XP_011531475.1:p.Gly1237Val
XM_011533174.1:c.3695G>T	XP_011531476.1:p.Gly1232Val
XM_011533175.1:c.3683G>T	XP_011531477.1:p.Gly1228Val
XM_011533176.1:c.3680G>T	XP_011531478.1:p.Gly1227Val
XM_011533177.1:c.3740-1454G>T	XP_011531479.1:n.3740-1454G>T
XM_011533178.1:c.3650G>T	XP_011531480.1:p.Gly1217Val
XM_011533179.1:c.3695-1454G>T	XP_011531481.1:n.3695-1454G>T
XM_011533180.1:c.3740G>T	XP_011531482.1:p.Gly1247Val
XM_011533181.1:c.2945G>T	XP_011531483.1:p.Gly982Val
XM_011533182.1:c.2900G>T	XP_011531484.1:p.Gly967Val
XM_011533183.1:c.2873G>T	XP_011531485.1:p.Gly958Val
XM_011533184.1:c.2780G>T	XP_011531486.1:p.Gly927Val
NM_001135659.2:c.3839G>T	NP_001129131.1:p.Gly1280Val
NM_001330077.1:c.3695G>T	NP_001317006.1:p.Gly1232Val
NM_001330078.1:c.3719G>T	NP_001317007.1:p.Gly1240Val
NM_001330082.1:c.3695G>T	NP_001317011.1:p.Gly1232Val
NM_001330083.1:c.3653-1454G>T	NP_001317012.1:n.3653-1454G>T
NM_001330084.1:c.3653G>T	NP_001317013.1:p.Gly1218Val
NM_001330085.1:c.3692G>T	NP_001317014.1:p.Gly1231Val
NM_001330086.1:c.3719G>T	NP_001317015.1:p.Gly1240Val
NM_001330087.1:c.3608-1454G>T	NP_001317016.1:n.3608-1454G>T
NM_001330088.1:c.3638-1454G>T	NP_001317017.1:n.3638-1454G>T
NM_001330091.1:c.614G>T	NP_001317020.1:p.Gly205Val
NM_001330092.1:c.614G>T	NP_001317021.1:p.Gly205Val
NM_001330093.1:c.3716G>T	NP_001317022.1:p.Gly1239Val
NM_001330094.1:c.3707G>T	NP_001317023.1:p.Gly1236Val
NM_001330095.1:c.3668-1454G>T	NP_001317024.1:n.3668-1454G>T
NM_001330096.1:c.3608-1454G>T	NP_001317025.1:n.3608-1454G>T
NM_001330097.1:c.614-1454G>T	NP_001317026.1:n.614-1454G>T
NM_004801.5:c.3719-1454G>T	NP_004792.1:n.3719-1454G>T
NM_138735.4:c.614-1454G>T	NP_620072.1:n.614-1454G>T
XM_005264642.4:c.3740G>T	XP_005264699.1:p.Gly1247Val
XM_006712137.4:c.3740-1454G>T	XP_006712200.1:n.3740-1454G>T
XM_006712140.4:c.3767G>T	XP_006712203.2:p.Gly1256Val
XM_011533167.3:c.3740G>T	XP_011531469.1:p.Gly1247Val
XM_011533172.3:c.3713G>T	XP_011531474.1:p.Gly1238Val
XM_011533175.3:c.3683G>T	XP_011531477.1:p.Gly1228Val
XM_011533177.3:c.3740-1454G>T	XP_011531479.1:n.3740-1454G>T
XM_011533178.3:c.3650G>T	XP_011531480.1:p.Gly1217Val
XM_011533180.3:c.3740G>T	XP_011531482.1:p.Gly1247Val
XM_011533183.2:c.2873G>T	XP_011531485.1:p.Gly958Val
XM_017005303.2:c.3767G>T	XP_016860792.1:p.Gly1256Val
XM_017005304.2:c.3764G>T	XP_016860793.1:p.Gly1255Val
XM_017005305.2:c.3767G>T	XP_016860794.1:p.Gly1256Val
XM_017005306.2:c.3755G>T	XP_016860795.1:p.Gly1252Val
XM_017005307.2:c.3749G>T	XP_016860796.1:p.Gly1250Val
XM_017005308.2:c.3746G>T	XP_016860797.1:p.Gly1249Val
XM_017005309.2:c.3740G>T	XP_016860798.1:p.Gly1247Val
XM_017005310.2:c.3737G>T	XP_016860799.1:p.Gly1246Val
XM_017005311.2:c.3722G>T	XP_016860800.1:p.Gly1241Val
XM_017005314.2:c.3707G>T	XP_016860803.1:p.Gly1236Val
XM_017005315.2:c.3713G>T	XP_016860804.1:p.Gly1238Val
XM_017005316.2:c.3704G>T	XP_016860805.1:p.Gly1235Val
XM_017005318.2:c.3695G>T	XP_016860807.1:p.Gly1232Val
XM_017005320.2:c.3692G>T	XP_016860809.1:p.Gly1231Val
XM_017005321.2:c.3767-1454G>T	XP_016860810.1:n.3767-1454G>T
XM_017005322.2:c.3767-1454G>T	XP_016860811.1:n.3767-1454G>T
XM_017005324.2:c.3713-1454G>T	XP_016860813.1:n.3713-1454G>T
XM_017005325.2:c.3713-1454G>T	XP_016860814.1:n.3713-1454G>T
XM_017005326.2:c.3701-1454G>T	XP_016860815.1:n.3701-1454G>T
XM_017005327.2:c.3695-1454G>T	XP_016860816.1:n.3695-1454G>T
XM_017005329.2:c.3767G>T	XP_016860818.1:p.Gly1256Val
XM_017005334.2:c.2807G>T	XP_016860823.1:p.Gly936Val
NM_001330078.2:c.3719G>T MANE Select	NP_001317007.1:p.Gly1240Val
NM_001135659.3:c.3839G>T	NP_001129131.1:p.Gly1280Val
NM_001330077.2:c.3695G>T	NP_001317006.1:p.Gly1232Val
NM_001330082.2:c.3695G>T	NP_001317011.1:p.Gly1232Val
NM_001330083.2:c.3653-1454G>T	NP_001317012.1:n.3653-1454G>T
NM_001330084.2:c.3653G>T	NP_001317013.1:p.Gly1218Val
NM_001330085.2:c.3692G>T	NP_001317014.1:p.Gly1231Val
NM_001330086.2:c.3719G>T	NP_001317015.1:p.Gly1240Val
NM_001330087.2:c.3608-1454G>T	NP_001317016.1:n.3608-1454G>T
NM_001330088.2:c.3638-1454G>T	NP_001317017.1:n.3638-1454G>T
NM_001330091.2:c.614G>T	NP_001317020.1:p.Gly205Val
NM_001330092.2:c.614G>T	NP_001317021.1:p.Gly205Val
NM_001330093.2:c.3716G>T	NP_001317022.1:p.Gly1239Val
NM_001330094.2:c.3707G>T	NP_001317023.1:p.Gly1236Val
NM_001330095.2:c.3668-1454G>T	NP_001317024.1:n.3668-1454G>T
NM_001330096.2:c.3608-1454G>T	NP_001317025.1:n.3608-1454G>T
NM_001330097.2:c.614-1454G>T	NP_001317026.1:n.614-1454G>T
NM_004801.6:c.3719-1454G>T	NP_004792.1:n.3719-1454G>T
NM_138735.5:c.614-1454G>T	NP_620072.1:n.614-1454G>T