Canonical Allele Identifier: CA358506108

Gene: DCHS2

Linked Data

• MyVariant Identifiers: chr4:g.155242176C>G (hg19) ; chr4:g.154321024C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154321024C>G , CM000666.2:g.154321024C>G	GRCh38
NC_000004.11:g.155242176C>G , CM000666.1:g.155242176C>G	GRCh37
NC_000004.10:g.155461626C>G	NCBI36
NG_054879.1:g.175755G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357232.10:c.4375G>C MANE Select	ENSP00000349768.5:p.Gly1459Arg
ENST00000623607.4:n.3009G>C
ENST00000357232.8:c.3009G>C
ENST00000623607.3:c.3010G>C	ENSP00000485514.1:p.Gly1004Arg
NM_017639.3:c.3010G>C	NP_060109.2:p.Gly1004Arg
XM_011532045.1:c.4375G>C	XP_011530347.1:p.Gly1459Arg
XM_011532046.1:c.2044G>C	XP_011530348.1:p.Gly682Arg
XM_011532047.1:c.1936G>C	XP_011530349.1:p.Gly646Arg
XM_011532048.1:c.433G>C	XP_011530350.1:p.Gly145Arg
NM_001358235.1:c.4375G>C	NP_001345164.1:p.Gly1459Arg
XM_011532046.2:c.2044G>C	XP_011530348.1:p.Gly682Arg
NM_001358235.2:c.4375G>C MANE Select	NP_001345164.1:p.Gly1459Arg