Canonical Allele Identifier: CA350699171

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220290701G>C (hg19) ; chr2:g.219425979G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425979G>C , CM000664.2:g.219425979G>C	GRCh38
NC_000002.11:g.220290701G>C , CM000664.1:g.220290701G>C	GRCh37
NC_000002.10:g.219998945G>C	NCBI36
NG_008043.1:g.12603G>C , LRG_380:g.12603G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.876G>C
ENST00000683013.1:n.790G>C
ENST00000373960.4:c.1402G>C MANE Select	ENSP00000363071.3:p.Glu468Gln
ENST00000373960.3:c.1402G>C	ENSP00000363071.3:p.Glu468Gln
ENST00000483395.1:n.257G>C
NM_001927.3:c.1402G>C , LRG_380t1:c.1402G>C	NP_001918.3:p.Glu468Gln
NM_001927.4:c.1402G>C MANE Select	NP_001918.3:p.Glu468Gln
NM_001382708.1:c.1399G>C	NP_001369637.1:p.Glu467Gln
NM_001382709.1:c.970G>C	NP_001369638.1:p.Glu324Gln
NM_001382710.1:c.1333G>C	NP_001369639.1:p.Glu445Gln
NM_001382711.1:c.1381G>C	NP_001369640.1:p.Glu461Gln
NM_001382712.1:c.1371+234G>C	NP_001369641.1:n.1371+234G>C
NM_001382713.1:c.1132G>C	NP_001369642.1:p.Glu378Gln