Canonical Allele Identifier: CA350690850

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220285240G>C (hg19) ; chr2:g.219420518G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420518G>C , CM000664.2:g.219420518G>C	GRCh38
NC_000002.11:g.220285240G>C , CM000664.1:g.220285240G>C	GRCh37
NC_000002.10:g.219993484G>C	NCBI36
NG_008043.1:g.7142G>C , LRG_380:g.7142G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.233G>C
ENST00000683013.1:n.147G>C
ENST00000373960.4:c.759G>C MANE Select	ENSP00000363071.3:p.Gln253His
ENST00000373960.3:c.759G>C	ENSP00000363071.3:p.Gln253His
ENST00000477226.5:n.231G>C
ENST00000492726.1:n.154G>C
NM_001927.3:c.759G>C , LRG_380t1:c.759G>C	NP_001918.3:p.Gln253His
NM_001927.4:c.759G>C MANE Select	NP_001918.3:p.Gln253His
NM_001382708.1:c.756G>C	NP_001369637.1:p.Gln252His
NM_001382709.1:c.735+172G>C	NP_001369638.1:n.735+172G>C
NM_001382710.1:c.759G>C	NP_001369639.1:p.Gln253His
NM_001382711.1:c.759G>C	NP_001369640.1:p.Gln253His
NM_001382712.1:c.759G>C	NP_001369641.1:p.Gln253His
NM_001382713.1:c.496-7G>C	NP_001369642.1:n.496-7G>C