Canonical Allele Identifier: CA350698590

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220290432G>C (hg19) ; chr2:g.219425710G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425710G>C , CM000664.2:g.219425710G>C	GRCh38
NC_000002.11:g.220290432G>C , CM000664.1:g.220290432G>C	GRCh37
NC_000002.10:g.219998676G>C	NCBI36
NG_008043.1:g.12334G>C , LRG_380:g.12334G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.810G>C
ENST00000683013.1:n.724G>C
ENST00000373960.4:c.1336G>C MANE Select	ENSP00000363071.3:p.Val446Leu
ENST00000373960.3:c.1336G>C	ENSP00000363071.3:p.Val446Leu
ENST00000483395.1:n.191G>C
NM_001927.3:c.1336G>C , LRG_380t1:c.1336G>C	NP_001918.3:p.Val446Leu
NM_001927.4:c.1336G>C MANE Select	NP_001918.3:p.Val446Leu
NM_001382708.1:c.1333G>C	NP_001369637.1:p.Val445Leu
NM_001382709.1:c.904G>C	NP_001369638.1:p.Val302Leu
NM_001382710.1:c.1267G>C	NP_001369639.1:p.Val423Leu
NM_001382711.1:c.1315G>C	NP_001369640.1:p.Val439Leu
NM_001382712.1:c.1336G>C	NP_001369641.1:p.Val446Leu
NM_001382713.1:c.1066G>C	NP_001369642.1:p.Val356Leu