Canonical Allele Identifier: CA65983318

Gene: DES

Linked Data

• dbSNP Id: rs897228277
• gnomAD v4: 2-219421314-T-G
• MyVariant Identifiers: chr2:g.220286036T>G (hg19) ; chr2:g.219421314T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421314T>G , CM000664.2:g.219421314T>G	GRCh38
NC_000002.11:g.220286036T>G , CM000664.1:g.220286036T>G	GRCh37
NC_000002.10:g.219994280T>G	NCBI36
NG_008043.1:g.7938T>G , LRG_380:g.7938T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.498-26T>G
ENST00000683013.1:n.412-26T>G
ENST00000373960.4:c.1024-26T>G MANE Select	ENSP00000363071.3:n.1024-26T>G
ENST00000373960.3:c.1024-26T>G	ENSP00000363071.3:n.1024-26T>G
ENST00000477226.5:n.496-26T>G
ENST00000492726.1:n.419-26T>G
NM_001927.3:c.1024-26T>G , LRG_380t1:c.1024-26T>G	NP_001918.3:n.1024-26T>G
NM_001927.4:c.1024-26T>G MANE Select	NP_001918.3:n.1024-26T>G
NM_001382708.1:c.1021-26T>G	NP_001369637.1:n.1021-26T>G
NM_001382709.1:c.736-170T>G	NP_001369638.1:n.736-170T>G
NM_001382710.1:c.1024-95T>G	NP_001369639.1:n.1024-95T>G
NM_001382711.1:c.1024-47T>G	NP_001369640.1:n.1024-47T>G
NM_001382712.1:c.1024-26T>G	NP_001369641.1:n.1024-26T>G
NM_001382713.1:c.754-26T>G	NP_001369642.1:n.754-26T>G