Canonical Allele Identifier: CA492510152

Gene: MCTP2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.94340894A>G , CM000677.2:g.94340894A>G	GRCh38
NC_000015.9:g.94884123A>G , CM000677.1:g.94884123A>G	GRCh37
NC_000015.8:g.92685127A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357742.10:c.939A>G MANE Select	ENSP00000350377.4:p.Leu313=
ENST00000357742.9:c.939A>G	ENSP00000350377.4:p.Leu313=
ENST00000357742.8:c.939A>G	ENSP00000350377.4:p.Leu313=
ENST00000451018.7:c.939A>G	ENSP00000395109.3:p.Leu313=
ENST00000456504.5:c.*477A>G	ENSP00000388887.1:n.*477A>G
ENST00000543482.5:c.939A>G	ENSP00000438521.1:p.Leu313=
ENST00000556363.5:n.1211A>G
NM_001159643.1:c.939A>G	NP_001153115.1:p.Leu313=
NM_018349.3:c.939A>G	NP_060819.3:p.Leu313=
XM_005254955.2:c.939A>G	XP_005255012.1:p.Leu313=
XM_006720603.2:c.939A>G	XP_006720666.1:p.Leu313=
XM_011521770.1:c.939A>G	XP_011520072.1:p.Leu313=
XM_011521771.1:c.939A>G	XP_011520073.1:p.Leu313=
XM_011521772.1:c.939A>G	XP_011520074.1:p.Leu313=
XM_011521773.1:c.939A>G	XP_011520075.1:p.Leu313=
XM_011521774.1:c.939A>G	XP_011520076.1:p.Leu313=
XR_931865.1:n.1004A>G
XM_005254955.4:c.939A>G	XP_005255012.1:p.Leu313=
XM_011521771.2:c.939A>G	XP_011520073.1:p.Leu313=
XM_011521772.2:c.939A>G	XP_011520074.1:p.Leu313=
XM_011521773.2:c.939A>G	XP_011520075.1:p.Leu313=
XM_011521774.2:c.939A>G	XP_011520076.1:p.Leu313=
XM_017022403.1:c.939A>G	XP_016877892.1:p.Leu313=
XM_017022404.1:c.939A>G	XP_016877893.1:p.Leu313=
XM_017022405.1:c.939A>G	XP_016877894.1:p.Leu313=
XM_024449982.1:c.657A>G	XP_024305750.1:p.Leu219=
XR_001751349.2:n.1004A>G
XR_931865.2:n.1004A>G
NM_001159643.2:c.939A>G	NP_001153115.1:p.Leu313=
NM_001385001.1:c.939A>G MANE Select	NP_001371930.1:p.Leu313=
NM_001385002.1:c.939A>G	NP_001371931.1:p.Leu313=
NM_001385003.1:c.939A>G	NP_001371932.1:p.Leu313=
NM_001385004.1:c.939A>G	NP_001371933.1:p.Leu313=
NM_001385005.1:c.939A>G	NP_001371934.1:p.Leu313=
NM_001385006.1:c.939A>G	NP_001371935.1:p.Leu313=
NM_001385007.1:c.657A>G	NP_001371936.1:p.Leu219=
NM_001385008.1:c.939A>G	NP_001371937.1:p.Leu313=
NM_001385009.1:c.441A>G	NP_001371938.1:p.Leu147=
NM_001385010.1:c.441A>G	NP_001371939.1:p.Leu147=
NM_001385011.1:c.657A>G	NP_001371940.1:p.Leu219=
NM_018349.4:c.939A>G	NP_060819.3:p.Leu313=
NR_169526.1:n.1108A>G
NR_169527.1:n.1218A>G
NR_169528.1:n.1246A>G
NR_169529.1:n.1218A>G
NR_169530.1:n.1218A>G
NR_169531.1:n.1108A>G
NR_169532.1:n.1587A>G