Canonical Allele Identifier: CA350686732

Gene: DES

Linked Data

• gnomAD v4: 2-219418968-T-C
• MyVariant Identifiers: chr2:g.220283690T>C (hg19) ; chr2:g.219418968T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418968T>C , CM000664.2:g.219418968T>C	GRCh38
NC_000002.11:g.220283690T>C , CM000664.1:g.220283690T>C	GRCh37
NC_000002.10:g.219991934T>C	NCBI36
NG_008043.1:g.5592T>C , LRG_380:g.5592T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.506T>C MANE Select	ENSP00000363071.3:p.Leu169Pro
ENST00000373960.3:c.506T>C	ENSP00000363071.3:p.Leu169Pro
NM_001927.3:c.506T>C , LRG_380t1:c.506T>C	NP_001918.3:p.Leu169Pro
NM_001927.4:c.506T>C MANE Select	NP_001918.3:p.Leu169Pro
NM_001382708.1:c.506T>C	NP_001369637.1:p.Leu169Pro
NM_001382709.1:c.506T>C	NP_001369638.1:p.Leu169Pro
NM_001382710.1:c.506T>C	NP_001369639.1:p.Leu169Pro
NM_001382711.1:c.506T>C	NP_001369640.1:p.Leu169Pro
NM_001382712.1:c.506T>C	NP_001369641.1:p.Leu169Pro
NM_001382713.1:c.495+11T>C	NP_001369642.1:n.495+11T>C