Canonical Allele Identifier: CA402135567

Gene: DSG2

Linked Data

• MyVariant Identifiers: chr18:g.29104723T>C (hg19) ; chr18:g.31524760T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524760T>C , CM000680.2:g.31524760T>C	GRCh38
NC_000018.9:g.29104723T>C , CM000680.1:g.29104723T>C	GRCh37
NC_000018.8:g.27358721T>C	NCBI36
NG_007072.3:g.31519T>C , LRG_397:g.31519T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.717T>C
ENST00000683614.2:n.717T>C
ENST00000682087.1:c.717T>C
ENST00000683614.1:c.717T>C
ENST00000261590.13:c.886T>C MANE Select	ENSP00000261590.8:p.Phe296Leu
ENST00000261590.12:c.886T>C	ENSP00000261590.8:p.Phe296Leu
NM_001943.3:c.886T>C , LRG_397t1:c.886T>C	NP_001934.2:p.Phe296Leu
NM_001943.4:c.886T>C	NP_001934.2:p.Phe296Leu
XM_024451095.1:c.352T>C	XP_024306863.1:p.Phe118Leu
NM_001943.5:c.886T>C MANE Select	NP_001934.2:p.Phe296Leu