Canonical Allele Identifier: CA2361187

Gene: NBEAL2

Linked Data

• dbSNP Id: rs747629800
• ExAC: 3:47041850 C / T
• gnomAD v2: 3-47041850-C-T
• gnomAD v4: 3-47000360-C-T
• MyVariant Identifiers: chr3:g.47041850C>T (hg19) ; chr3:g.47041850_47041853delinsTCCA (hg19) ; chr3:g.47000360C>T (hg38) ; chr3:g.47000360_47000363delinsTCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000360C>T , CM000665.2:g.47000360C>T	GRCh38
NC_000003.11:g.47041850C>T , CM000665.1:g.47041850C>T	GRCh37
NC_000003.10:g.47016854C>T	NCBI36
NG_031914.1:g.25678C>T , LRG_568:g.25678C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4261C>T MANE Select	ENSP00000415034.2:p.Pro1421Ser
ENST00000651747.1:c.4159C>T	ENSP00000499216.1:p.Pro1387Ser
ENST00000416683.5:c.2124C>T
ENST00000450053.7:c.4261C>T	ENSP00000415034.2:p.Pro1421Ser
NM_015175.2:c.4261C>T , LRG_568t1:c.4261C>T	NP_055990.1:p.Pro1421Ser
XM_005264992.2:c.4159C>T	XP_005265049.1:p.Pro1387Ser
XM_005264993.2:c.733C>T	XP_005265050.1:p.Pro245Ser
XM_006713072.2:c.4180C>T	XP_006713135.1:p.Pro1394Ser
XM_011533532.1:c.4240C>T	XP_011531834.1:p.Pro1414Ser
XM_011533533.1:c.4261C>T	XP_011531835.1:p.Pro1421Ser
XM_011533534.1:c.3892C>T	XP_011531836.1:p.Pro1298Ser
XM_011533535.1:c.3721C>T	XP_011531837.1:p.Pro1241Ser
XM_011533536.1:c.3607C>T	XP_011531838.1:p.Pro1203Ser
XM_011533537.1:c.3169C>T	XP_011531839.1:p.Pro1057Ser
XR_940397.1:n.4437C>T
XR_940398.1:n.4437C>T
NM_001365116.1:c.4159C>T	NP_001352045.1:p.Pro1387Ser
XM_006713072.3:c.4180C>T	XP_006713135.1:p.Pro1394Ser
XM_011533533.2:c.4261C>T	XP_011531835.1:p.Pro1421Ser
XM_017006010.1:c.4261C>T	XP_016861499.1:p.Pro1421Ser
XM_017006011.1:c.4240C>T	XP_016861500.1:p.Pro1414Ser
XM_017006012.1:c.4180C>T	XP_016861501.1:p.Pro1394Ser
XM_017006013.1:c.4261C>T	XP_016861502.1:p.Pro1421Ser
XM_017006014.1:c.4159C>T	XP_016861503.1:p.Pro1387Ser
XM_017006015.1:c.3892C>T	XP_016861504.1:p.Pro1298Ser
XM_017006016.1:c.3721C>T	XP_016861505.1:p.Pro1241Ser
XM_017006017.1:c.733C>T	XP_016861506.1:p.Pro245Ser
XR_940397.2:n.4437C>T
NM_001365116.2:c.4159C>T	NP_001352045.1:p.Pro1387Ser
NM_015175.3:c.4261C>T MANE Select	NP_055990.1:p.Pro1421Ser