Canonical Allele Identifier: CA385419598
Gene: NAB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.57488395A>C (hg19) chr12:g.57094612A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57094612A>C , CM000674.2:g.57094612A>C GRCh38
NC_000012.11:g.57488395A>C , CM000674.1:g.57488395A>C GRCh37
NC_000012.10:g.55774662A>C NCBI36
NG_021272.1:g.21802T>G
NG_021272.2:g.42528T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000300131.8:c.1469A>C MANE Select ENSP00000300131.3:p.Glu490Ala
ENST00000300131.7:c.1469A>C ENSP00000300131.3:p.Glu490Ala
ENST00000342556.6:c.1277A>C ENSP00000341491.6:p.Glu426Ala
NM_005967.3:c.1469A>C NP_005958.1:p.Glu490Ala
XM_005268894.2:c.1277A>C XP_005268951.1:p.Glu426Ala
NM_001330305.1:c.1277A>C NP_001317234.1:p.Glu426Ala
NM_005967.4:c.1469A>C MANE Select NP_005958.1:p.Glu490Ala
NM_001330305.2:c.1277A>C NP_001317234.1:p.Glu426Ala
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