Canonical Allele Identifier: CA690247831

Gene: NAB2

Linked Data

• dbSNP Id: rs1226443860
• MyVariant Identifiers: chr12:g.57488221C>T (hg19) ; chr12:g.57094438C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57094438C>T , CM000674.2:g.57094438C>T	GRCh38
NC_000012.11:g.57488221C>T , CM000674.1:g.57488221C>T	GRCh37
NC_000012.10:g.55774488C>T	NCBI36
NG_021272.1:g.21976G>A
NG_021272.2:g.42702G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300131.8:c.1469-174C>T MANE Select	ENSP00000300131.3:n.1469-174C>T
ENST00000300131.7:c.1469-174C>T	ENSP00000300131.3:n.1469-174C>T
ENST00000342556.6:c.1277-174C>T	ENSP00000341491.6:n.1277-174C>T
NM_005967.3:c.1469-174C>T	NP_005958.1:n.1469-174C>T
XM_005268894.2:c.1277-174C>T	XP_005268951.1:n.1277-174C>T
NM_001330305.1:c.1277-174C>T	NP_001317234.1:n.1277-174C>T
NM_005967.4:c.1469-174C>T MANE Select	NP_005958.1:n.1469-174C>T
NM_001330305.2:c.1277-174C>T	NP_001317234.1:n.1277-174C>T