Canonical Allele Identifier: CA350690745

Gene: DES

Linked Data

• dbSNP Id: rs375906682
• gnomAD v3: 2-219420502-G-C
• gnomAD v4: 2-219420502-G-C
• MyVariant Identifiers: chr2:g.220285224G>C (hg19) ; chr2:g.219420502G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420502G>C , CM000664.2:g.219420502G>C	GRCh38
NC_000002.11:g.220285224G>C , CM000664.1:g.220285224G>C	GRCh37
NC_000002.10:g.219993468G>C	NCBI36
NG_008043.1:g.7126G>C , LRG_380:g.7126G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.217G>C
ENST00000683013.1:n.131G>C
ENST00000373960.4:c.743G>C MANE Select	ENSP00000363071.3:p.Arg248Pro
ENST00000373960.3:c.743G>C	ENSP00000363071.3:p.Arg248Pro
ENST00000477226.5:n.215G>C
ENST00000492726.1:n.138G>C
NM_001927.3:c.743G>C , LRG_380t1:c.743G>C	NP_001918.3:p.Arg248Pro
NM_001927.4:c.743G>C MANE Select	NP_001918.3:p.Arg248Pro
NM_001382708.1:c.740G>C	NP_001369637.1:p.Arg247Pro
NM_001382709.1:c.735+156G>C	NP_001369638.1:n.735+156G>C
NM_001382710.1:c.743G>C	NP_001369639.1:p.Arg248Pro
NM_001382711.1:c.743G>C	NP_001369640.1:p.Arg248Pro
NM_001382712.1:c.743G>C	NP_001369641.1:p.Arg248Pro
NM_001382713.1:c.496-23G>C	NP_001369642.1:n.496-23G>C