Canonical Allele Identifier: CA385419639

Gene: NAB2

Linked Data

• dbSNP Id: rs1310747836
• gnomAD v2: 12-57488415-G-A
• gnomAD v3: 12-57094632-G-A
• gnomAD v4: 12-57094632-G-A
• MyVariant Identifiers: chr12:g.57488415G>A (hg19) ; chr12:g.57094632G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57094632G>A , CM000674.2:g.57094632G>A	GRCh38
NC_000012.11:g.57488415G>A , CM000674.1:g.57488415G>A	GRCh37
NC_000012.10:g.55774682G>A	NCBI36
NG_021272.1:g.21782C>T
NG_021272.2:g.42508C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300131.8:c.1489G>A MANE Select	ENSP00000300131.3:p.Asp497Asn
ENST00000300131.7:c.1489G>A	ENSP00000300131.3:p.Asp497Asn
ENST00000342556.6:c.1297G>A	ENSP00000341491.6:p.Asp433Asn
NM_005967.3:c.1489G>A	NP_005958.1:p.Asp497Asn
XM_005268894.2:c.1297G>A	XP_005268951.1:p.Asp433Asn
NM_001330305.1:c.1297G>A	NP_001317234.1:p.Asp433Asn
NM_005967.4:c.1489G>A MANE Select	NP_005958.1:p.Asp497Asn
NM_001330305.2:c.1297G>A	NP_001317234.1:p.Asp433Asn