Canonical Allele Identifier: CA385419645
Gene: NAB2 HGNC NCBI

Linked Data

gnomAD v4: 12-57094634-C-A
MyVariant Identifiers: chr12:g.57488417C>A (hg19) chr12:g.57094634C>A (hg38)
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Genomic Alleles

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

Transcript Alleles

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