Canonical Allele Identifier: CA050329

Gene: DSG2

Linked Data

• dbSNP Id: rs768927687
• ExAC: 18:29104707 T / C
• gnomAD v2: 18-29104707-T-C
• gnomAD v4: 18-31524744-T-C
• MyVariant Identifiers: chr18:g.29104707T>C (hg19) ; chr18:g.31524744T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524744T>C , CM000680.2:g.31524744T>C	GRCh38
NC_000018.9:g.29104707T>C , CM000680.1:g.29104707T>C	GRCh37
NC_000018.8:g.27358705T>C	NCBI36
NG_007072.3:g.31503T>C , LRG_397:g.31503T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.701T>C
ENST00000683614.2:n.701T>C
ENST00000682087.1:c.701T>C
ENST00000683614.1:c.701T>C
ENST00000261590.13:c.870T>C MANE Select	ENSP00000261590.8:p.Val290=
ENST00000261590.12:c.870T>C	ENSP00000261590.8:p.Val290=
NM_001943.3:c.870T>C , LRG_397t1:c.870T>C	NP_001934.2:p.Val290=
NM_001943.4:c.870T>C	NP_001934.2:p.Val290=
XM_024451095.1:c.336T>C	XP_024306863.1:p.Val112=
NM_001943.5:c.870T>C MANE Select	NP_001934.2:p.Val290=