Canonical Allele Identifier: CA350694143

Gene: DES

Linked Data

• ClinVar Variation Id: 2935423
• ClinVar RCV Id: RCV003791077
• dbSNP Id: rs1954439557
• gnomAD v4: 2-219421409-G-C
• MyVariant Identifiers: chr2:g.220286131G>C (hg19) ; chr2:g.219421409G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421409G>C , CM000664.2:g.219421409G>C	GRCh38
NC_000002.11:g.220286131G>C , CM000664.1:g.220286131G>C	GRCh37
NC_000002.10:g.219994375G>C	NCBI36
NG_008043.1:g.8033G>C , LRG_380:g.8033G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.567G>C
ENST00000683013.1:n.481G>C
ENST00000373960.4:c.1093G>C MANE Select	ENSP00000363071.3:p.Asp365His
ENST00000373960.3:c.1093G>C	ENSP00000363071.3:p.Asp365His
ENST00000477226.5:n.565G>C
ENST00000492726.1:n.488G>C
NM_001927.3:c.1093G>C , LRG_380t1:c.1093G>C	NP_001918.3:p.Asp365His
NM_001927.4:c.1093G>C MANE Select	NP_001918.3:p.Asp365His
NM_001382708.1:c.1090G>C	NP_001369637.1:p.Asp364His
NM_001382709.1:c.736-75G>C	NP_001369638.1:n.736-75G>C
NM_001382710.1:c.1024G>C	NP_001369639.1:p.Asp342His
NM_001382711.1:c.1072G>C	NP_001369640.1:p.Asp358His
NM_001382712.1:c.1093G>C	NP_001369641.1:p.Asp365His
NM_001382713.1:c.823G>C	NP_001369642.1:p.Asp275His