Canonical Allele Identifier: CA350698945

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220290675T>C (hg19) ; chr2:g.219425953T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425953T>C , CM000664.2:g.219425953T>C	GRCh38
NC_000002.11:g.220290675T>C , CM000664.1:g.220290675T>C	GRCh37
NC_000002.10:g.219998919T>C	NCBI36
NG_008043.1:g.12577T>C , LRG_380:g.12577T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.850T>C
ENST00000683013.1:n.764T>C
ENST00000373960.4:c.1376T>C MANE Select	ENSP00000363071.3:p.Val459Ala
ENST00000373960.3:c.1376T>C	ENSP00000363071.3:p.Val459Ala
ENST00000483395.1:n.231T>C
NM_001927.3:c.1376T>C , LRG_380t1:c.1376T>C	NP_001918.3:p.Val459Ala
NM_001927.4:c.1376T>C MANE Select	NP_001918.3:p.Val459Ala
NM_001382708.1:c.1373T>C	NP_001369637.1:p.Val458Ala
NM_001382709.1:c.944T>C	NP_001369638.1:p.Val315Ala
NM_001382710.1:c.1307T>C	NP_001369639.1:p.Val436Ala
NM_001382711.1:c.1355T>C	NP_001369640.1:p.Val452Ala
NM_001382712.1:c.1371+208T>C	NP_001369641.1:n.1371+208T>C
NM_001382713.1:c.1106T>C	NP_001369642.1:p.Val369Ala