Canonical Allele Identifier: CA237070

Gene: DES

Linked Data

• ClinVar Variation Id: 191615
• ClinVar RCV Id: RCV000171884
• dbSNP Id: rs202010947
• MyVariant Identifiers: chr2:g.220286171A>C (hg19) ; chr2:g.219421449A>C (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421449A>C , CM000664.2:g.219421449A>C	GRCh38
NC_000002.11:g.220286171A>C , CM000664.1:g.220286171A>C	GRCh37
NC_000002.10:g.219994415A>C	NCBI36
NG_008043.1:g.8073A>C , LRG_380:g.8073A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.607A>C
ENST00000683013.1:n.521A>C
ENST00000373960.4:c.1133A>C MANE Select	ENSP00000363071.3:p.Lys378Thr
ENST00000373960.3:c.1133A>C	ENSP00000363071.3:p.Lys378Thr
ENST00000477226.5:n.605A>C
ENST00000492726.1:n.528A>C
NM_001927.3:c.1133A>C , LRG_380t1:c.1133A>C	NP_001918.3:p.Lys378Thr
NM_001927.4:c.1133A>C MANE Select	NP_001918.3:p.Lys378Thr
NM_001382708.1:c.1130A>C	NP_001369637.1:p.Lys377Thr
NM_001382709.1:c.736-35A>C	NP_001369638.1:n.736-35A>C
NM_001382710.1:c.1064A>C	NP_001369639.1:p.Lys355Thr
NM_001382711.1:c.1112A>C	NP_001369640.1:p.Lys371Thr
NM_001382712.1:c.1133A>C	NP_001369641.1:p.Lys378Thr
NM_001382713.1:c.863A>C	NP_001369642.1:p.Lys288Thr