Canonical Allele Identifier: CA350694966

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286242A>C (hg19) ; chr2:g.219421520A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421520A>C , CM000664.2:g.219421520A>C	GRCh38
NC_000002.11:g.220286242A>C , CM000664.1:g.220286242A>C	GRCh37
NC_000002.10:g.219994486A>C	NCBI36
NG_008043.1:g.8144A>C , LRG_380:g.8144A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.678A>C
ENST00000683013.1:n.592A>C
ENST00000373960.4:c.1204A>C MANE Select	ENSP00000363071.3:p.Ile402Leu
ENST00000373960.3:c.1204A>C	ENSP00000363071.3:p.Ile402Leu
ENST00000477226.5:n.676A>C
ENST00000492726.1:n.599A>C
NM_001927.3:c.1204A>C , LRG_380t1:c.1204A>C	NP_001918.3:p.Ile402Leu
NM_001927.4:c.1204A>C MANE Select	NP_001918.3:p.Ile402Leu
NM_001382708.1:c.1201A>C	NP_001369637.1:p.Ile401Leu
NM_001382709.1:c.772A>C	NP_001369638.1:p.Ile258Leu
NM_001382710.1:c.1135A>C	NP_001369639.1:p.Ile379Leu
NM_001382711.1:c.1183A>C	NP_001369640.1:p.Ile395Leu
NM_001382712.1:c.1204A>C	NP_001369641.1:p.Ile402Leu
NM_001382713.1:c.934A>C	NP_001369642.1:p.Ile312Leu