Canonical Allele Identifier: CA350699271

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220290712A>C (hg19) ; chr2:g.219425990A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425990A>C , CM000664.2:g.219425990A>C	GRCh38
NC_000002.11:g.220290712A>C , CM000664.1:g.220290712A>C	GRCh37
NC_000002.10:g.219998956A>C	NCBI36
NG_008043.1:g.12614A>C , LRG_380:g.12614A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.887A>C
ENST00000683013.1:n.801A>C
ENST00000373960.4:c.1413A>C MANE Select	ENSP00000363071.3:p.Ter471Tyr
ENST00000373960.3:c.1413A>C	ENSP00000363071.3:p.Ter471Tyr
ENST00000483395.1:n.268A>C
NM_001927.3:c.1413A>C , LRG_380t1:c.1413A>C	NP_001918.3:p.Ter471Tyr
NM_001927.4:c.1413A>C MANE Select	NP_001918.3:p.Ter471Tyr
NM_001382708.1:c.1410A>C	NP_001369637.1:p.Ter470Tyr
NM_001382709.1:c.981A>C	NP_001369638.1:p.Ter327Tyr
NM_001382710.1:c.1344A>C	NP_001369639.1:p.Ter448Tyr
NM_001382711.1:c.1392A>C	NP_001369640.1:p.Ter464Tyr
NM_001382712.1:c.1371+245A>C	NP_001369641.1:n.1371+245A>C
NM_001382713.1:c.1143A>C	NP_001369642.1:p.Ter381Tyr