Canonical Allele Identifier: CA350694854

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286221A>C (hg19) ; chr2:g.219421499A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421499A>C , CM000664.2:g.219421499A>C	GRCh38
NC_000002.11:g.220286221A>C , CM000664.1:g.220286221A>C	GRCh37
NC_000002.10:g.219994465A>C	NCBI36
NG_008043.1:g.8123A>C , LRG_380:g.8123A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.657A>C
ENST00000683013.1:n.571A>C
ENST00000373960.4:c.1183A>C MANE Select	ENSP00000363071.3:p.Lys395Gln
ENST00000373960.3:c.1183A>C	ENSP00000363071.3:p.Lys395Gln
ENST00000477226.5:n.655A>C
ENST00000492726.1:n.578A>C
NM_001927.3:c.1183A>C , LRG_380t1:c.1183A>C	NP_001918.3:p.Lys395Gln
NM_001927.4:c.1183A>C MANE Select	NP_001918.3:p.Lys395Gln
NM_001382708.1:c.1180A>C	NP_001369637.1:p.Lys394Gln
NM_001382709.1:c.751A>C	NP_001369638.1:p.Lys251Gln
NM_001382710.1:c.1114A>C	NP_001369639.1:p.Lys372Gln
NM_001382711.1:c.1162A>C	NP_001369640.1:p.Lys388Gln
NM_001382712.1:c.1183A>C	NP_001369641.1:p.Lys395Gln
NM_001382713.1:c.913A>C	NP_001369642.1:p.Lys305Gln