Canonical Allele Identifier: CA764964839

Gene: DES

Linked Data

• dbSNP Id: rs1299865491
• gnomAD v3: 2-219419224-C-G
• gnomAD v4: 2-219419224-C-G
• MyVariant Identifiers: chr2:g.220283946C>G (hg19) ; chr2:g.219419224C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219419224C>G , CM000664.2:g.219419224C>G	GRCh38
NC_000002.11:g.220283946C>G , CM000664.1:g.220283946C>G	GRCh37
NC_000002.10:g.219992190C>G	NCBI36
NG_008043.1:g.5848C>G , LRG_380:g.5848C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.578+184C>G MANE Select	ENSP00000363071.3:n.578+184C>G
ENST00000373960.3:c.578+184C>G	ENSP00000363071.3:n.578+184C>G
NM_001927.3:c.578+184C>G , LRG_380t1:c.578+184C>G	NP_001918.3:n.578+184C>G
NM_001927.4:c.578+184C>G MANE Select	NP_001918.3:n.578+184C>G
NM_001382708.1:c.578+184C>G	NP_001369637.1:n.578+184C>G
NM_001382709.1:c.578+184C>G	NP_001369638.1:n.578+184C>G
NM_001382710.1:c.578+184C>G	NP_001369639.1:n.578+184C>G
NM_001382711.1:c.578+184C>G	NP_001369640.1:n.578+184C>G
NM_001382712.1:c.578+184C>G	NP_001369641.1:n.578+184C>G
NM_001382713.1:c.495+267C>G	NP_001369642.1:n.495+267C>G