Canonical Allele Identifier: CA869071428
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1435566030
gnomAD v3: 9-98541819-T-A
gnomAD v4: 9-98541819-T-A
MyVariant Identifiers: chr9:g.101304101T>A (hg19) chr9:g.98541819T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541819T>A , CM000671.2:g.98541819T>A GRCh38
NC_000009.11:g.101304101T>A , CM000671.1:g.101304101T>A GRCh37
NC_000009.10:g.100343922T>A NCBI36
NG_016426.1:g.172379A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.630+54A>T MANE Select ENSP00000259455.2:n.630+54A>T
ENST00000637410.1:n.408+54A>T
ENST00000259455.3:c.630+54A>T ENSP00000259455.2:n.630+54A>T
ENST00000477471.1:n.417+54A>T
ENST00000634227.1:n.404+54A>T
NM_005458.7:c.630+54A>T NP_005449.5:n.630+54A>T
XM_017015331.2:c.336+54A>T XP_016870820.1:n.336+54A>T
NM_005458.8:c.630+54A>T MANE Select NP_005449.5:n.630+54A>T
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