Canonical Allele Identifier: CA350699087

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220290693A>C (hg19) ; chr2:g.219425971A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425971A>C , CM000664.2:g.219425971A>C	GRCh38
NC_000002.11:g.220290693A>C , CM000664.1:g.220290693A>C	GRCh37
NC_000002.10:g.219998937A>C	NCBI36
NG_008043.1:g.12595A>C , LRG_380:g.12595A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.868A>C
ENST00000683013.1:n.782A>C
ENST00000373960.4:c.1394A>C MANE Select	ENSP00000363071.3:p.Gln465Pro
ENST00000373960.3:c.1394A>C	ENSP00000363071.3:p.Gln465Pro
ENST00000483395.1:n.249A>C
NM_001927.3:c.1394A>C , LRG_380t1:c.1394A>C	NP_001918.3:p.Gln465Pro
NM_001927.4:c.1394A>C MANE Select	NP_001918.3:p.Gln465Pro
NM_001382708.1:c.1391A>C	NP_001369637.1:p.Gln464Pro
NM_001382709.1:c.962A>C	NP_001369638.1:p.Gln321Pro
NM_001382710.1:c.1325A>C	NP_001369639.1:p.Gln442Pro
NM_001382711.1:c.1373A>C	NP_001369640.1:p.Gln458Pro
NM_001382712.1:c.1371+226A>C	NP_001369641.1:n.1371+226A>C
NM_001382713.1:c.1124A>C	NP_001369642.1:p.Gln375Pro