Canonical Allele Identifier: CA350683839

Gene: DES

Linked Data

• dbSNP Id: rs1252919776
• gnomAD v2: 2-220283384-G-C
• gnomAD v4: 2-219418662-G-C
• MyVariant Identifiers: chr2:g.220283384G>C (hg19) ; chr2:g.219418662G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418662G>C , CM000664.2:g.219418662G>C	GRCh38
NC_000002.11:g.220283384G>C , CM000664.1:g.220283384G>C	GRCh37
NC_000002.10:g.219991628G>C	NCBI36
NG_008043.1:g.5286G>C , LRG_380:g.5286G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373960.4:c.200G>C MANE Select	ENSP00000363071.3:p.Gly67Ala
ENST00000373960.3:c.200G>C	ENSP00000363071.3:p.Gly67Ala
NM_001927.3:c.200G>C , LRG_380t1:c.200G>C	NP_001918.3:p.Gly67Ala
NM_001927.4:c.200G>C MANE Select	NP_001918.3:p.Gly67Ala
NM_001382708.1:c.200G>C	NP_001369637.1:p.Gly67Ala
NM_001382709.1:c.200G>C	NP_001369638.1:p.Gly67Ala
NM_001382710.1:c.200G>C	NP_001369639.1:p.Gly67Ala
NM_001382711.1:c.200G>C	NP_001369640.1:p.Gly67Ala
NM_001382712.1:c.200G>C	NP_001369641.1:p.Gly67Ala
NM_001382713.1:c.200G>C	NP_001369642.1:p.Gly67Ala