Canonical Allele Identifier: CA385419632
Gene: NAB2 HGNC NCBI

Linked Data

gnomAD v4: 12-57094627-T-C
MyVariant Identifiers: chr12:g.57488410T>C (hg19) chr12:g.57094627T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57094627T>C , CM000674.2:g.57094627T>C GRCh38
NC_000012.11:g.57488410T>C , CM000674.1:g.57488410T>C GRCh37
NC_000012.10:g.55774677T>C NCBI36
NG_021272.1:g.21787A>G
NG_021272.2:g.42513A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000300131.8:c.1484T>C MANE Select ENSP00000300131.3:p.Leu495Pro
ENST00000300131.7:c.1484T>C ENSP00000300131.3:p.Leu495Pro
ENST00000342556.6:c.1292T>C ENSP00000341491.6:p.Leu431Pro
NM_005967.3:c.1484T>C NP_005958.1:p.Leu495Pro
XM_005268894.2:c.1292T>C XP_005268951.1:p.Leu431Pro
NM_001330305.1:c.1292T>C NP_001317234.1:p.Leu431Pro
NM_005967.4:c.1484T>C MANE Select NP_005958.1:p.Leu495Pro
NM_001330305.2:c.1292T>C NP_001317234.1:p.Leu431Pro
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