Canonical Allele Identifier: CA401339514

Gene: CBX2

Linked Data

• MyVariant Identifiers: chr17:g.77758481G>T (hg19) ; chr17:g.79784682G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.79784682G>T , CM000679.2:g.79784682G>T	GRCh38
NC_000017.10:g.77758481G>T , CM000679.1:g.77758481G>T	GRCh37
NC_000017.9:g.75373076G>T	NCBI36
NG_016986.1:g.11505G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310942.9:c.1239G>T MANE Select	ENSP00000308750.4:p.Lys413Asn
ENST00000310942.8:c.1239G>T	ENSP00000308750.4:p.Lys413Asn
NM_005189.2:c.1239G>T	NP_005180.1:p.Lys413Asn
XM_011525382.1:c.1239G>T	XP_011523684.1:p.Lys413Asn
XM_011525383.1:c.984G>T	XP_011523685.1:p.Lys328Asn
XM_011525383.2:c.984G>T	XP_011523685.1:p.Lys328Asn
NM_005189.3:c.1239G>T MANE Select	NP_005180.1:p.Lys413Asn