Canonical Allele Identifier: CA368514972
Community Standard Title: NM_005273.4(GNB2):c.265A>G (p.Lys89Glu)
Gene: GNB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100677413A>G , CM000669.2:g.100677413A>G GRCh38
NC_000007.13:g.100275036A>G , CM000669.1:g.100275036A>G GRCh37
NC_000007.12:g.100112972A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_005273.4:c.265A>G MANE Select NP_005264.2:p.Lys89Glu
ENST00000303210.9:c.265A>G MANE Select ENSP00000305260.4:p.Lys89Glu
NM_005273.3:c.265A>G NP_005264.2:p.Lys89Glu
ENST00000303210.8:c.265A>G ENSP00000305260.4:p.Lys89Glu
ENST00000393924.1:c.265A>G ENSP00000377501.1:p.Lys89Glu
ENST00000393926.5:c.265A>G ENSP00000377503.1:p.Lys89Glu
ENST00000412215.5:c.265A>G ENSP00000413219.1:p.Lys89Glu
ENST00000419828.5:c.-36A>G ENSP00000390543.1:n.-36A>G
ENST00000424361.5:c.133A>G ENSP00000389391.1:p.Lys45Glu
ENST00000427895.5:c.-33-85A>G ENSP00000400286.1:n.-33-85A>G
ENST00000431068.5:c.265A>G ENSP00000390077.1:p.Lys89Glu
ENST00000436220.5:c.133A>G ENSP00000401873.1:p.Lys45Glu
ENST00000451587.5:c.265A>G ENSP00000399904.1:p.Lys89Glu
ENST00000469287.5:n.578A>G
ENST00000470354.1:n.44A>G
ENST00000480159.1:n.860A>G