Canonical Allele Identifier: CA653193675
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs374521037
gnomAD v3: 9-98541624-C-T
gnomAD v4: 9-98541624-C-T
COSMIC: COSN14468399
MyVariant Identifiers: chr9:g.101303906C>T (hg19) chr9:g.98541624C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541624C>T , CM000671.2:g.98541624C>T GRCh38
NC_000009.11:g.101303906C>T , CM000671.1:g.101303906C>T GRCh37
NC_000009.10:g.100343727C>T NCBI36
NG_016426.1:g.172574G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.630+249G>A MANE Select ENSP00000259455.2:n.630+249G>A
ENST00000637410.1:n.408+249G>A
ENST00000259455.3:c.630+249G>A ENSP00000259455.2:n.630+249G>A
ENST00000477471.1:n.417+249G>A
ENST00000634227.1:n.404+249G>A
NM_005458.7:c.630+249G>A NP_005449.5:n.630+249G>A
XM_017015331.2:c.336+249G>A XP_016870820.1:n.336+249G>A
NM_005458.8:c.630+249G>A MANE Select NP_005449.5:n.630+249G>A
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