Canonical Allele Identifier: CA350686790

Gene: DES

Linked Data

• ClinVar Variation Id: 1361684
• ClinVar RCV Id: RCV001931906
• dbSNP Id: rs2125166557
• MyVariant Identifiers: chr2:g.220283699A>C (hg19) ; chr2:g.219418977A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418977A>C , CM000664.2:g.219418977A>C	GRCh38
NC_000002.11:g.220283699A>C , CM000664.1:g.220283699A>C	GRCh37
NC_000002.10:g.219991943A>C	NCBI36
NG_008043.1:g.5601A>C , LRG_380:g.5601A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.515A>C MANE Select	ENSP00000363071.3:p.Gln172Pro
ENST00000373960.3:c.515A>C	ENSP00000363071.3:p.Gln172Pro
NM_001927.3:c.515A>C , LRG_380t1:c.515A>C	NP_001918.3:p.Gln172Pro
NM_001927.4:c.515A>C MANE Select	NP_001918.3:p.Gln172Pro
NM_001382708.1:c.515A>C	NP_001369637.1:p.Gln172Pro
NM_001382709.1:c.515A>C	NP_001369638.1:p.Gln172Pro
NM_001382710.1:c.515A>C	NP_001369639.1:p.Gln172Pro
NM_001382711.1:c.515A>C	NP_001369640.1:p.Gln172Pro
NM_001382712.1:c.515A>C	NP_001369641.1:p.Gln172Pro
NM_001382713.1:c.495+20A>C	NP_001369642.1:n.495+20A>C