Canonical Allele Identifier: CA402135226

Gene: DSG2

Linked Data

• MyVariant Identifiers: chr18:g.29104523A>C (hg19) ; chr18:g.31524560A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524560A>C , CM000680.2:g.31524560A>C	GRCh38
NC_000018.9:g.29104523A>C , CM000680.1:g.29104523A>C	GRCh37
NC_000018.8:g.27358521A>C	NCBI36
NG_007072.3:g.31319A>C , LRG_397:g.31319A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.634A>C
ENST00000683614.2:n.634A>C
ENST00000682087.1:c.634A>C
ENST00000683614.1:c.634A>C
ENST00000261590.13:c.803A>C MANE Select	ENSP00000261590.8:p.Asn268Thr
ENST00000261590.12:c.803A>C	ENSP00000261590.8:p.Asn268Thr
NM_001943.3:c.803A>C , LRG_397t1:c.803A>C	NP_001934.2:p.Asn268Thr
NM_001943.4:c.803A>C	NP_001934.2:p.Asn268Thr
XM_024451095.1:c.269A>C	XP_024306863.1:p.Asn90Thr
NM_001943.5:c.803A>C MANE Select	NP_001934.2:p.Asn268Thr