Canonical Allele Identifier: CA022646

Gene: DSC2

Linked Data

• ClinVar Variation Id: 199771
• ClinVar RCV Id: RCV000765410
• dbSNP Id: rs765067237
• ExAC: 18:28650697 T / G
• gnomAD v2: 18-28650697-T-G
• gnomAD v3: 18-31070731-T-G
• gnomAD v4: 18-31070731-T-G
• MyVariant Identifiers: chr18:g.28650697T>G (hg19) ; chr18:g.31070731T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31070731T>G , CM000680.2:g.31070731T>G	GRCh38
NC_000018.9:g.28650697T>G , CM000680.1:g.28650697T>G	GRCh37
NC_000018.8:g.26904695T>G	NCBI36
NG_008208.2:g.36695A>C , LRG_400:g.36695A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682357.1:c.1816A>C	ENSP00000507826.1:p.Lys606Gln
ENST00000251081.8:c.2245A>C	ENSP00000251081.6:p.Lys749Gln
ENST00000280904.11:c.2245A>C MANE Select	ENSP00000280904.6:p.Lys749Gln
ENST00000648081.1:c.1816A>C	ENSP00000497441.1:p.Lys606Gln
ENST00000251081.6:c.2245A>C	ENSP00000251081.6:p.Lys749Gln
ENST00000280904.10:c.2245A>C	ENSP00000280904.6:p.Lys749Gln
NM_004949.4:c.2245A>C	NP_004940.1:p.Lys749Gln
NM_024422.4:c.2245A>C	NP_077740.1:p.Lys749Gln
XM_005258206.3:c.1816A>C	XP_005258263.1:p.Lys606Gln
XM_005258206.4:c.1816A>C	XP_005258263.1:p.Lys606Gln
NM_004949.5:c.2245A>C	NP_004940.1:p.Lys749Gln
NM_024422.6:c.2245A>C MANE Select	NP_077740.1:p.Lys749Gln