Canonical Allele Identifier: CA526382867

Gene: GATAD2B

Linked Data

• dbSNP Id: rs763182091
• gnomAD v2: 1-153784476-G-C
• MyVariant Identifiers: chr1:g.153784476G>C (hg19) ; chr1:g.153812000G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153812000G>C , CM000663.2:g.153812000G>C	GRCh38
NC_000001.10:g.153784476G>C , CM000663.1:g.153784476G>C	GRCh37
NC_000001.9:g.152051100G>C	NCBI36
NG_050988.1:g.115976C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000368655.5:c.1530+22C>G MANE Select	ENSP00000357644.4:n.1530+22C>G
ENST00000637918.1:c.17+22C>G
ENST00000368655.4:c.1530+22C>G	ENSP00000357644.4:n.1530+22C>G
ENST00000634408.1:c.1482+22C>G	ENSP00000489595.1:n.1482+22C>G
ENST00000634544.1:c.1530+22C>G	ENSP00000489184.1:n.1530+22C>G
ENST00000634564.1:c.784+22C>G
ENST00000634645.1:n.254+22C>G
NM_020699.2:c.1530+22C>G	NP_065750.1:n.1530+22C>G
XM_005245364.3:c.1530+22C>G	XP_005245421.1:n.1530+22C>G
XM_006711469.2:c.1530+22C>G	XP_006711532.1:n.1530+22C>G
XM_011509808.1:c.1530+22C>G	XP_011508110.1:n.1530+22C>G
NM_020699.3:c.1530+22C>G	NP_065750.1:n.1530+22C>G
XM_005245364.4:c.1530+22C>G	XP_005245421.1:n.1530+22C>G
XM_024448621.1:c.1530+22C>G	XP_024304389.1:n.1530+22C>G
NM_020699.4:c.1530+22C>G MANE Select	NP_065750.1:n.1530+22C>G