Canonical Allele Identifier: CA350694359

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286158A>C (hg19) ; chr2:g.219421436A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421436A>C , CM000664.2:g.219421436A>C	GRCh38
NC_000002.11:g.220286158A>C , CM000664.1:g.220286158A>C	GRCh37
NC_000002.10:g.219994402A>C	NCBI36
NG_008043.1:g.8060A>C , LRG_380:g.8060A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.594A>C
ENST00000683013.1:n.508A>C
ENST00000373960.4:c.1120A>C MANE Select	ENSP00000363071.3:p.Ile374Leu
ENST00000373960.3:c.1120A>C	ENSP00000363071.3:p.Ile374Leu
ENST00000477226.5:n.592A>C
ENST00000492726.1:n.515A>C
NM_001927.3:c.1120A>C , LRG_380t1:c.1120A>C	NP_001918.3:p.Ile374Leu
NM_001927.4:c.1120A>C MANE Select	NP_001918.3:p.Ile374Leu
NM_001382708.1:c.1117A>C	NP_001369637.1:p.Ile373Leu
NM_001382709.1:c.736-48A>C	NP_001369638.1:n.736-48A>C
NM_001382710.1:c.1051A>C	NP_001369639.1:p.Ile351Leu
NM_001382711.1:c.1099A>C	NP_001369640.1:p.Ile367Leu
NM_001382712.1:c.1120A>C	NP_001369641.1:p.Ile374Leu
NM_001382713.1:c.850A>C	NP_001369642.1:p.Ile284Leu