Canonical Allele Identifier: CA350698958

Gene: DES

Linked Data

• dbSNP Id: rs267607491
• MyVariant Identifiers: chr2:g.220290678G>C (hg19) ; chr2:g.219425956G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425956G>C , CM000664.2:g.219425956G>C	GRCh38
NC_000002.11:g.220290678G>C , CM000664.1:g.220290678G>C	GRCh37
NC_000002.10:g.219998922G>C	NCBI36
NG_008043.1:g.12580G>C , LRG_380:g.12580G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.853G>C
ENST00000683013.1:n.767G>C
ENST00000373960.4:c.1379G>C MANE Select	ENSP00000363071.3:p.Ser460Thr
ENST00000373960.3:c.1379G>C	ENSP00000363071.3:p.Ser460Thr
ENST00000483395.1:n.234G>C
NM_001927.3:c.1379G>C , LRG_380t1:c.1379G>C	NP_001918.3:p.Ser460Thr
NM_001927.4:c.1379G>C MANE Select	NP_001918.3:p.Ser460Thr
NM_001382708.1:c.1376G>C	NP_001369637.1:p.Ser459Thr
NM_001382709.1:c.947G>C	NP_001369638.1:p.Ser316Thr
NM_001382710.1:c.1310G>C	NP_001369639.1:p.Ser437Thr
NM_001382711.1:c.1358G>C	NP_001369640.1:p.Ser453Thr
NM_001382712.1:c.1371+211G>C	NP_001369641.1:n.1371+211G>C
NM_001382713.1:c.1109G>C	NP_001369642.1:p.Ser370Thr