Canonical Allele Identifier: CA1120876

Gene: GATAD2B

Linked Data

• dbSNP Id: rs769608614
• ExAC: 1:153792163 C / A
• gnomAD v2: 1-153792163-C-A
• MyVariant Identifiers: chr1:g.153792163C>A (hg19) ; chr1:g.153819687C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153819687C>A , CM000663.2:g.153819687C>A	GRCh38
NC_000001.10:g.153792163C>A , CM000663.1:g.153792163C>A	GRCh37
NC_000001.9:g.152058787C>A	NCBI36
NG_050988.1:g.108289G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703630.1:c.-40G>T	ENSP00000515408.1:n.-40G>T
ENST00000368655.5:c.384G>T MANE Select	ENSP00000357644.4:p.Leu128Phe
ENST00000638051.1:n.102G>T
ENST00000368655.4:c.384G>T	ENSP00000357644.4:p.Leu128Phe
ENST00000634401.1:c.384G>T	ENSP00000489313.1:p.Leu128Phe
ENST00000634408.1:c.384G>T	ENSP00000489595.1:p.Leu128Phe
ENST00000634544.1:c.384G>T	ENSP00000489184.1:p.Leu128Phe
ENST00000634791.1:c.384G>T	ENSP00000489566.1:p.Leu128Phe
NM_020699.2:c.384G>T	NP_065750.1:p.Leu128Phe
XM_005245364.3:c.384G>T	XP_005245421.1:p.Leu128Phe
XM_006711469.2:c.384G>T	XP_006711532.1:p.Leu128Phe
XM_011509808.1:c.384G>T	XP_011508110.1:p.Leu128Phe
NM_020699.3:c.384G>T	NP_065750.1:p.Leu128Phe
XM_005245364.4:c.384G>T	XP_005245421.1:p.Leu128Phe
XM_024448621.1:c.384G>T	XP_024304389.1:p.Leu128Phe
NM_020699.4:c.384G>T MANE Select	NP_065750.1:p.Leu128Phe