Canonical Allele Identifier: CA197076903
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs903729926
gnomAD v2: 9-101304071-C-A
gnomAD v3: 9-98541789-C-A
gnomAD v4: 9-98541789-C-A
MyVariant Identifiers: chr9:g.101304071C>A (hg19) chr9:g.98541789C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541789C>A , CM000671.2:g.98541789C>A GRCh38
NC_000009.11:g.101304071C>A , CM000671.1:g.101304071C>A GRCh37
NC_000009.10:g.100343892C>A NCBI36
NG_016426.1:g.172409G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.630+84G>T MANE Select ENSP00000259455.2:n.630+84G>T
ENST00000637410.1:n.408+84G>T
ENST00000259455.3:c.630+84G>T ENSP00000259455.2:n.630+84G>T
ENST00000477471.1:n.417+84G>T
ENST00000634227.1:n.404+84G>T
NM_005458.7:c.630+84G>T NP_005449.5:n.630+84G>T
XM_017015331.2:c.336+84G>T XP_016870820.1:n.336+84G>T
NM_005458.8:c.630+84G>T MANE Select NP_005449.5:n.630+84G>T
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