Canonical Allele Identifier: CA402132228

Gene: DSG2

Linked Data

• MyVariant Identifiers: chr18:g.29101150A>C (hg19) ; chr18:g.31521187A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31521187A>C , CM000680.2:g.31521187A>C	GRCh38
NC_000018.9:g.29101150A>C , CM000680.1:g.29101150A>C	GRCh37
NC_000018.8:g.27355148A>C	NCBI36
NG_007072.3:g.27946A>C , LRG_397:g.27946A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.298A>C
ENST00000682241.2:c.467A>C	ENSP00000507600.2:p.Glu156Ala
ENST00000683614.2:n.298A>C
ENST00000682087.1:c.298A>C
ENST00000682241.1:c.298A>C
ENST00000683614.1:c.298A>C
ENST00000683654.1:c.467A>C	ENSP00000506971.1:p.Glu156Ala
ENST00000684461.1:n.298A>C
ENST00000261590.13:c.467A>C MANE Select	ENSP00000261590.8:p.Glu156Ala
ENST00000261590.12:c.467A>C	ENSP00000261590.8:p.Glu156Ala
ENST00000585206.1:c.467A>C	ENSP00000462503.1:p.Glu156Ala
NM_001943.3:c.467A>C , LRG_397t1:c.467A>C	NP_001934.2:p.Glu156Ala
NM_001943.4:c.467A>C	NP_001934.2:p.Glu156Ala
XM_024451095.1:c.-68A>C	XP_024306863.1:n.-68A>C
NM_001943.5:c.467A>C MANE Select	NP_001934.2:p.Glu156Ala