Canonical Allele Identifier: CA350694478

Gene: DES

Linked Data

• gnomAD v4: 2-219421451-G-C
• MyVariant Identifiers: chr2:g.220286173G>C (hg19) ; chr2:g.219421451G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421451G>C , CM000664.2:g.219421451G>C	GRCh38
NC_000002.11:g.220286173G>C , CM000664.1:g.220286173G>C	GRCh37
NC_000002.10:g.219994417G>C	NCBI36
NG_008043.1:g.8075G>C , LRG_380:g.8075G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.609G>C
ENST00000683013.1:n.523G>C
ENST00000373960.4:c.1135G>C MANE Select	ENSP00000363071.3:p.Asp379His
ENST00000373960.3:c.1135G>C	ENSP00000363071.3:p.Asp379His
ENST00000477226.5:n.607G>C
ENST00000492726.1:n.530G>C
NM_001927.3:c.1135G>C , LRG_380t1:c.1135G>C	NP_001918.3:p.Asp379His
NM_001927.4:c.1135G>C MANE Select	NP_001918.3:p.Asp379His
NM_001382708.1:c.1132G>C	NP_001369637.1:p.Asp378His
NM_001382709.1:c.736-33G>C	NP_001369638.1:n.736-33G>C
NM_001382710.1:c.1066G>C	NP_001369639.1:p.Asp356His
NM_001382711.1:c.1114G>C	NP_001369640.1:p.Asp372His
NM_001382712.1:c.1135G>C	NP_001369641.1:p.Asp379His
NM_001382713.1:c.865G>C	NP_001369642.1:p.Asp289His