Canonical Allele Identifier: CA174637
Gene: DCHS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 161708
ClinVar RCV Id: RCV000149244
dbSNP Id: rs193920995
ExAC: 4:155242176 C / T
gnomAD v2: 4-155242176-C-T
gnomAD v3: 4-154321024-C-T
gnomAD v4: 4-154321024-C-T
COSMIC: COSM1178793
MyVariant Identifiers: chr4:g.155242176C>T (hg19) chr4:g.154321024C>T (hg38)
PubMed: PMID:23265383
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000357232.10:c.4375G>A MANE Select ENSP00000349768.5:p.Gly1459Arg
ENST00000623607.4:n.3009G>A
ENST00000357232.8:c.3009G>A
ENST00000623607.3:c.3010G>A ENSP00000485514.1:p.Gly1004Arg
NM_017639.3:c.3010G>A NP_060109.2:p.Gly1004Arg
XM_011532045.1:c.4375G>A XP_011530347.1:p.Gly1459Arg
XM_011532046.1:c.2044G>A XP_011530348.1:p.Gly682Arg
XM_011532047.1:c.1936G>A XP_011530349.1:p.Gly646Arg
XM_011532048.1:c.433G>A XP_011530350.1:p.Gly145Arg
NM_001358235.1:c.4375G>A NP_001345164.1:p.Gly1459Arg
XM_011532046.2:c.2044G>A XP_011530348.1:p.Gly682Arg
NM_001358235.2:c.4375G>A MANE Select NP_001345164.1:p.Gly1459Arg
Search 100 bp 5'
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