Canonical Allele Identifier: CA350693726

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286075T>C (hg19) ; chr2:g.219421353T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421353T>C , CM000664.2:g.219421353T>C	GRCh38
NC_000002.11:g.220286075T>C , CM000664.1:g.220286075T>C	GRCh37
NC_000002.10:g.219994319T>C	NCBI36
NG_008043.1:g.7977T>C , LRG_380:g.7977T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.511T>C
ENST00000683013.1:n.425T>C
ENST00000373960.4:c.1037T>C MANE Select	ENSP00000363071.3:p.Met346Thr
ENST00000373960.3:c.1037T>C	ENSP00000363071.3:p.Met346Thr
ENST00000477226.5:n.509T>C
ENST00000492726.1:n.432T>C
NM_001927.3:c.1037T>C , LRG_380t1:c.1037T>C	NP_001918.3:p.Met346Thr
NM_001927.4:c.1037T>C MANE Select	NP_001918.3:p.Met346Thr
NM_001382708.1:c.1034T>C	NP_001369637.1:p.Met345Thr
NM_001382709.1:c.736-131T>C	NP_001369638.1:n.736-131T>C
NM_001382710.1:c.1024-56T>C	NP_001369639.1:n.1024-56T>C
NM_001382711.1:c.1024-8T>C	NP_001369640.1:n.1024-8T>C
NM_001382712.1:c.1037T>C	NP_001369641.1:p.Met346Thr
NM_001382713.1:c.767T>C	NP_001369642.1:p.Met256Thr