Canonical Allele Identifier: CA022384

Gene: DSC2

Linked Data

• ClinVar Variation Id: 161222
• ClinVar RCV Id: RCV002354337
• dbSNP Id: rs368299411
• ExAC: 18:28662951 T / C
• gnomAD v2: 18-28662951-T-C
• gnomAD v3: 18-31082985-T-C
• gnomAD v4: 18-31082985-T-C
• MyVariant Identifiers: chr18:g.28662951T>C (hg19) ; chr18:g.31082985T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31082985T>C , CM000680.2:g.31082985T>C	GRCh38
NC_000018.9:g.28662951T>C , CM000680.1:g.28662951T>C	GRCh37
NC_000018.8:g.26916949T>C	NCBI36
NG_008208.2:g.24441A>G , LRG_400:g.24441A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682357.1:c.589A>G	ENSP00000507826.1:p.Thr197Ala
ENST00000251081.8:c.1018A>G	ENSP00000251081.6:p.Thr340Ala
ENST00000280904.11:c.1018A>G MANE Select	ENSP00000280904.6:p.Thr340Ala
ENST00000648081.1:c.589A>G	ENSP00000497441.1:p.Thr197Ala
ENST00000251081.6:c.1018A>G	ENSP00000251081.6:p.Thr340Ala
ENST00000280904.10:c.1018A>G	ENSP00000280904.6:p.Thr340Ala
NM_004949.4:c.1018A>G	NP_004940.1:p.Thr340Ala
NM_024422.4:c.1018A>G	NP_077740.1:p.Thr340Ala
XM_005258206.3:c.589A>G	XP_005258263.1:p.Thr197Ala
XM_005258206.4:c.589A>G	XP_005258263.1:p.Thr197Ala
NM_004949.5:c.1018A>G	NP_004940.1:p.Thr340Ala
NM_024422.6:c.1018A>G MANE Select	NP_077740.1:p.Thr340Ala