Canonical Allele Identifier: CA350694771

Gene: DES

Linked Data

• ClinVar Variation Id: 1010171
• ClinVar RCV Id: RCV001307759 ; RCV003145544
• dbSNP Id: rs1954443135
• MyVariant Identifiers: chr2:g.220286210T>C (hg19) ; chr2:g.219421488T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421488T>C , CM000664.2:g.219421488T>C	GRCh38
NC_000002.11:g.220286210T>C , CM000664.1:g.220286210T>C	GRCh37
NC_000002.10:g.219994454T>C	NCBI36
NG_008043.1:g.8112T>C , LRG_380:g.8112T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.646T>C
ENST00000683013.1:n.560T>C
ENST00000373960.4:c.1172T>C MANE Select	ENSP00000363071.3:p.Leu391Pro
ENST00000373960.3:c.1172T>C	ENSP00000363071.3:p.Leu391Pro
ENST00000477226.5:n.644T>C
ENST00000492726.1:n.567T>C
NM_001927.3:c.1172T>C , LRG_380t1:c.1172T>C	NP_001918.3:p.Leu391Pro
NM_001927.4:c.1172T>C MANE Select	NP_001918.3:p.Leu391Pro
NM_001382708.1:c.1169T>C	NP_001369637.1:p.Leu390Pro
NM_001382709.1:c.740T>C	NP_001369638.1:p.Leu247Pro
NM_001382710.1:c.1103T>C	NP_001369639.1:p.Leu368Pro
NM_001382711.1:c.1151T>C	NP_001369640.1:p.Leu384Pro
NM_001382712.1:c.1172T>C	NP_001369641.1:p.Leu391Pro
NM_001382713.1:c.902T>C	NP_001369642.1:p.Leu301Pro