Canonical Allele Identifier: CA350693800

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286083A>C (hg19) ; chr2:g.219421361A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421361A>C , CM000664.2:g.219421361A>C	GRCh38
NC_000002.11:g.220286083A>C , CM000664.1:g.220286083A>C	GRCh37
NC_000002.10:g.219994327A>C	NCBI36
NG_008043.1:g.7985A>C , LRG_380:g.7985A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.519A>C
ENST00000683013.1:n.433A>C
ENST00000373960.4:c.1045A>C MANE Select	ENSP00000363071.3:p.Met349Leu
ENST00000373960.3:c.1045A>C	ENSP00000363071.3:p.Met349Leu
ENST00000477226.5:n.517A>C
ENST00000492726.1:n.440A>C
NM_001927.3:c.1045A>C , LRG_380t1:c.1045A>C	NP_001918.3:p.Met349Leu
NM_001927.4:c.1045A>C MANE Select	NP_001918.3:p.Met349Leu
NM_001382708.1:c.1042A>C	NP_001369637.1:p.Met348Leu
NM_001382709.1:c.736-123A>C	NP_001369638.1:n.736-123A>C
NM_001382710.1:c.1024-48A>C	NP_001369639.1:n.1024-48A>C
NM_001382711.1:c.1024A>C	NP_001369640.1:p.Met342Leu
NM_001382712.1:c.1045A>C	NP_001369641.1:p.Met349Leu
NM_001382713.1:c.775A>C	NP_001369642.1:p.Met259Leu