Canonical Allele Identifier: CA1120627

Gene: GATAD2B

Linked Data

• dbSNP Id: rs767721612
• ExAC: 1:153784489 G / A
• gnomAD v2: 1-153784489-G-A
• gnomAD v4: 1-153812013-G-A
• MyVariant Identifiers: chr1:g.153784489G>A (hg19) ; chr1:g.153812013G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153812013G>A , CM000663.2:g.153812013G>A	GRCh38
NC_000001.10:g.153784489G>A , CM000663.1:g.153784489G>A	GRCh37
NC_000001.9:g.152051113G>A	NCBI36
NG_050988.1:g.115963C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000368655.5:c.1530+9C>T MANE Select	ENSP00000357644.4:n.1530+9C>T
ENST00000637918.1:c.17+9C>T
ENST00000368655.4:c.1530+9C>T	ENSP00000357644.4:n.1530+9C>T
ENST00000634408.1:c.1482+9C>T	ENSP00000489595.1:n.1482+9C>T
ENST00000634544.1:c.1530+9C>T	ENSP00000489184.1:n.1530+9C>T
ENST00000634564.1:c.784+9C>T
ENST00000634645.1:n.254+9C>T
NM_020699.2:c.1530+9C>T	NP_065750.1:n.1530+9C>T
XM_005245364.3:c.1530+9C>T	XP_005245421.1:n.1530+9C>T
XM_006711469.2:c.1530+9C>T	XP_006711532.1:n.1530+9C>T
XM_011509808.1:c.1530+9C>T	XP_011508110.1:n.1530+9C>T
NM_020699.3:c.1530+9C>T	NP_065750.1:n.1530+9C>T
XM_005245364.4:c.1530+9C>T	XP_005245421.1:n.1530+9C>T
XM_024448621.1:c.1530+9C>T	XP_024304389.1:n.1530+9C>T
NM_020699.4:c.1530+9C>T MANE Select	NP_065750.1:n.1530+9C>T