Canonical Allele Identifier: CA402130867

Gene: DSG2

Linked Data

• dbSNP Id: rs121913013
• gnomAD v3: 18-31519887-G-T
• gnomAD v4: 18-31519887-G-T
• MyVariant Identifiers: chr18:g.29099850G>T (hg19) ; chr18:g.31519887G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31519887G>T , CM000680.2:g.31519887G>T	GRCh38
NC_000018.9:g.29099850G>T , CM000680.1:g.29099850G>T	GRCh37
NC_000018.8:g.27353848G>T	NCBI36
NG_007072.3:g.26646G>T , LRG_397:g.26646G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682241.2:c.166G>T	ENSP00000507600.2:p.Val56Leu
ENST00000683654.1:c.166G>T	ENSP00000506971.1:p.Val56Leu
ENST00000261590.13:c.166G>T MANE Select	ENSP00000261590.8:p.Val56Leu
ENST00000261590.12:c.166G>T	ENSP00000261590.8:p.Val56Leu
ENST00000585206.1:c.166G>T	ENSP00000462503.1:p.Val56Leu
NM_001943.3:c.166G>T , LRG_397t1:c.166G>T	NP_001934.2:p.Val56Leu
NM_001943.4:c.166G>T	NP_001934.2:p.Val56Leu
XM_024451095.1:c.-369G>T	XP_024306863.1:n.-369G>T
NM_001943.5:c.166G>T MANE Select	NP_001934.2:p.Val56Leu