Canonical Allele Identifier: CA374350989
Gene: GABBR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.101304223T>G (hg19) chr9:g.98541941T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541941T>G , CM000671.2:g.98541941T>G GRCh38
NC_000009.11:g.101304223T>G , CM000671.1:g.101304223T>G GRCh37
NC_000009.10:g.100344044T>G NCBI36
NG_016426.1:g.172257A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.562A>C MANE Select ENSP00000259455.2:p.Lys188Gln
ENST00000637410.1:n.340A>C
ENST00000637717.1:c.178A>C ENSP00000490789.1:p.Lys60Gln
ENST00000259455.3:c.562A>C ENSP00000259455.2:p.Lys188Gln
ENST00000477471.1:n.349A>C
ENST00000634227.1:n.336A>C
NM_005458.7:c.562A>C NP_005449.5:p.Lys188Gln
XM_017015331.2:c.268A>C XP_016870820.1:p.Lys90Gln
NM_005458.8:c.562A>C MANE Select NP_005449.5:p.Lys188Gln
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