Canonical Allele Identifier: CA65983159

Gene: DES

Linked Data

• dbSNP Id: rs913819064
• gnomAD v3: 2-219421143-T-C
• gnomAD v4: 2-219421143-T-C
• MyVariant Identifiers: chr2:g.220285865T>C (hg19) ; chr2:g.219421143T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421143T>C , CM000664.2:g.219421143T>C	GRCh38
NC_000002.11:g.220285865T>C , CM000664.1:g.220285865T>C	GRCh37
NC_000002.10:g.219994109T>C	NCBI36
NG_008043.1:g.7767T>C , LRG_380:g.7767T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.497+190T>C
ENST00000683013.1:n.411+190T>C
ENST00000373960.4:c.1023+190T>C MANE Select	ENSP00000363071.3:n.1023+190T>C
ENST00000373960.3:c.1023+190T>C	ENSP00000363071.3:n.1023+190T>C
ENST00000477226.5:n.495+190T>C
ENST00000492726.1:n.418+190T>C
NM_001927.3:c.1023+190T>C , LRG_380t1:c.1023+190T>C	NP_001918.3:n.1023+190T>C
NM_001927.4:c.1023+190T>C MANE Select	NP_001918.3:n.1023+190T>C
NM_001382708.1:c.1020+190T>C	NP_001369637.1:n.1020+190T>C
NM_001382709.1:c.736-341T>C	NP_001369638.1:n.736-341T>C
NM_001382710.1:c.1023+190T>C	NP_001369639.1:n.1023+190T>C
NM_001382711.1:c.1023+190T>C	NP_001369640.1:n.1023+190T>C
NM_001382712.1:c.1023+190T>C	NP_001369641.1:n.1023+190T>C
NM_001382713.1:c.753+190T>C	NP_001369642.1:n.753+190T>C