Canonical Allele Identifier: CA402135403

Gene: DSG2

Linked Data

• MyVariant Identifiers: chr18:g.29104678G>T (hg19) ; chr18:g.31524715G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524715G>T , CM000680.2:g.31524715G>T	GRCh38
NC_000018.9:g.29104678G>T , CM000680.1:g.29104678G>T	GRCh37
NC_000018.8:g.27358676G>T	NCBI36
NG_007072.3:g.31474G>T , LRG_397:g.31474G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.672G>T
ENST00000683614.2:n.672G>T
ENST00000682087.1:c.672G>T
ENST00000683614.1:c.672G>T
ENST00000261590.13:c.841G>T MANE Select	ENSP00000261590.8:p.Val281Phe
ENST00000261590.12:c.841G>T	ENSP00000261590.8:p.Val281Phe
NM_001943.3:c.841G>T , LRG_397t1:c.841G>T	NP_001934.2:p.Val281Phe
NM_001943.4:c.841G>T	NP_001934.2:p.Val281Phe
XM_024451095.1:c.307G>T	XP_024306863.1:p.Val103Phe
NM_001943.5:c.841G>T MANE Select	NP_001934.2:p.Val281Phe