Canonical Allele Identifier: CA385419646

Gene: NAB2

Linked Data

• MyVariant Identifiers: chr12:g.57488417C>G (hg19) ; chr12:g.57094634C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57094634C>G , CM000674.2:g.57094634C>G	GRCh38
NC_000012.11:g.57488417C>G , CM000674.1:g.57488417C>G	GRCh37
NC_000012.10:g.55774684C>G	NCBI36
NG_021272.1:g.21780G>C
NG_021272.2:g.42506G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300131.8:c.1491C>G MANE Select	ENSP00000300131.3:p.Asp497Glu
ENST00000300131.7:c.1491C>G	ENSP00000300131.3:p.Asp497Glu
ENST00000342556.6:c.1299C>G	ENSP00000341491.6:p.Asp433Glu
NM_005967.3:c.1491C>G	NP_005958.1:p.Asp497Glu
XM_005268894.2:c.1299C>G	XP_005268951.1:p.Asp433Glu
NM_001330305.1:c.1299C>G	NP_001317234.1:p.Asp433Glu
NM_005967.4:c.1491C>G MANE Select	NP_005958.1:p.Asp497Glu
NM_001330305.2:c.1299C>G	NP_001317234.1:p.Asp433Glu