Canonical Allele Identifier: CA402112298

Gene: DSC2

Linked Data

• gnomAD v4: 18-31070734-C-G
• MyVariant Identifiers: chr18:g.28650700C>G (hg19) ; chr18:g.31070734C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31070734C>G , CM000680.2:g.31070734C>G	GRCh38
NC_000018.9:g.28650700C>G , CM000680.1:g.28650700C>G	GRCh37
NC_000018.8:g.26904698C>G	NCBI36
NG_008208.2:g.36692G>C , LRG_400:g.36692G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682357.1:c.1813G>C	ENSP00000507826.1:p.Asp605His
ENST00000251081.8:c.2242G>C	ENSP00000251081.6:p.Asp748His
ENST00000280904.11:c.2242G>C MANE Select	ENSP00000280904.6:p.Asp748His
ENST00000648081.1:c.1813G>C	ENSP00000497441.1:p.Asp605His
ENST00000251081.6:c.2242G>C	ENSP00000251081.6:p.Asp748His
ENST00000280904.10:c.2242G>C	ENSP00000280904.6:p.Asp748His
NM_004949.4:c.2242G>C	NP_004940.1:p.Asp748His
NM_024422.4:c.2242G>C	NP_077740.1:p.Asp748His
XM_005258206.3:c.1813G>C	XP_005258263.1:p.Asp605His
XM_005258206.4:c.1813G>C	XP_005258263.1:p.Asp605His
NM_004949.5:c.2242G>C	NP_004940.1:p.Asp748His
NM_024422.6:c.2242G>C MANE Select	NP_077740.1:p.Asp748His