Canonical Allele Identifier: CA216997

Gene: DES

Linked Data

• ClinVar Variation Id: 16820
• ClinVar RCV Id: RCV000056762 ; RCV000856836 ; RCV002265557
• dbSNP Id: rs59962885
• MyVariant Identifiers: chr2:g.220285661G>C (hg19) ; chr2:g.219420939G>C (hg38)
• PubMed: PMID:9697706

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420939G>C , CM000664.2:g.219420939G>C	GRCh38
NC_000002.11:g.220285661G>C , CM000664.1:g.220285661G>C	GRCh37
NC_000002.10:g.219993905G>C	NCBI36
NG_008043.1:g.7563G>C , LRG_380:g.7563G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.483G>C
ENST00000683013.1:n.397G>C
ENST00000373960.4:c.1009G>C MANE Select	ENSP00000363071.3:p.Ala337Pro
ENST00000373960.3:c.1009G>C	ENSP00000363071.3:p.Ala337Pro
ENST00000477226.5:n.481G>C
ENST00000492726.1:n.404G>C
NM_001927.3:c.1009G>C , LRG_380t1:c.1009G>C	NP_001918.3:p.Ala337Pro
NM_001927.4:c.1009G>C MANE Select	NP_001918.3:p.Ala337Pro
NM_001382708.1:c.1006G>C	NP_001369637.1:p.Ala336Pro
NM_001382709.1:c.736-545G>C	NP_001369638.1:n.736-545G>C
NM_001382710.1:c.1009G>C	NP_001369639.1:p.Ala337Pro
NM_001382711.1:c.1009G>C	NP_001369640.1:p.Ala337Pro
NM_001382712.1:c.1009G>C	NP_001369641.1:p.Ala337Pro
NM_001382713.1:c.739G>C	NP_001369642.1:p.Ala247Pro