Canonical Allele Identifier: CA402130869

Gene: DSG2

Linked Data

• MyVariant Identifiers: chr18:g.29099850G>C (hg19) ; chr18:g.31519887G>C (hg38)

Genomic Alleles

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

Transcript Alleles

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