Canonical Allele Identifier: CA402134180

Gene: DSG2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522250G>C , CM000680.2:g.31522250G>C	GRCh38
NC_000018.9:g.29102213G>C , CM000680.1:g.29102213G>C	GRCh37
NC_000018.8:g.27356211G>C	NCBI36
NG_007072.3:g.29009G>C , LRG_397:g.29009G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.521+1G>C
ENST00000682241.2:c.690+1G>C	ENSP00000507600.2:n.690+1G>C
ENST00000683614.2:n.521+1G>C
ENST00000682087.1:c.521+1G>C
ENST00000682241.1:c.521+1G>C
ENST00000683614.1:c.521+1G>C
ENST00000683654.1:c.690+1G>C	ENSP00000506971.1:n.690+1G>C
ENST00000684461.1:n.1361G>C
ENST00000261590.13:c.690+1G>C MANE Select	ENSP00000261590.8:n.690+1G>C
ENST00000261590.12:c.690+1G>C	ENSP00000261590.8:n.690+1G>C
ENST00000585206.1:c.691G>C	ENSP00000462503.1:p.Val231Leu
NM_001943.3:c.690+1G>C , LRG_397t1:c.690+1G>C	NP_001934.2:n.690+1G>C
NM_001943.4:c.690+1G>C	NP_001934.2:n.690+1G>C
XM_024451095.1:c.156+1G>C	XP_024306863.1:n.156+1G>C
NM_001943.5:c.690+1G>C MANE Select	NP_001934.2:n.690+1G>C