Canonical Allele Identifier: CA342535145

Gene: GATAD2B

Linked Data

• ClinVar Variation Id: 1514044
• ClinVar RCV Id: RCV002046058
• dbSNP Id: rs2101883090
• MyVariant Identifiers: chr1:g.153792122A>C (hg19) ; chr1:g.153819646A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153819646A>C , CM000663.2:g.153819646A>C	GRCh38
NC_000001.10:g.153792122A>C , CM000663.1:g.153792122A>C	GRCh37
NC_000001.9:g.152058746A>C	NCBI36
NG_050988.1:g.108330T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703630.1:c.2T>G	ENSP00000515408.1:p.Met1Arg
ENST00000368655.5:c.425T>G MANE Select	ENSP00000357644.4:p.Met142Arg
ENST00000368655.4:c.425T>G	ENSP00000357644.4:p.Met142Arg
ENST00000634401.1:c.425T>G	ENSP00000489313.1:p.Met142Arg
ENST00000634408.1:c.425T>G	ENSP00000489595.1:p.Met142Arg
ENST00000634544.1:c.425T>G	ENSP00000489184.1:p.Met142Arg
ENST00000634791.1:c.425T>G	ENSP00000489566.1:p.Met142Arg
NM_020699.2:c.425T>G	NP_065750.1:p.Met142Arg
XM_005245364.3:c.425T>G	XP_005245421.1:p.Met142Arg
XM_006711469.2:c.425T>G	XP_006711532.1:p.Met142Arg
XM_011509808.1:c.425T>G	XP_011508110.1:p.Met142Arg
NM_020699.3:c.425T>G	NP_065750.1:p.Met142Arg
XM_005245364.4:c.425T>G	XP_005245421.1:p.Met142Arg
XM_024448621.1:c.425T>G	XP_024304389.1:p.Met142Arg
NM_020699.4:c.425T>G MANE Select	NP_065750.1:p.Met142Arg