Canonical Allele Identifier: CA034970

Gene: DSC2

Linked Data

• ClinVar Variation Id: 429956
• ClinVar RCV Id: RCV000493412 ; RCV000776315 ; RCV001041300 ; RCV002431440 ; RCV004003485
• dbSNP Id: rs180863872
• ExAC: 18:28650804 G / A
• gnomAD v2: 18-28650804-G-A
• gnomAD v3: 18-31070838-G-A
• gnomAD v4: 18-31070838-G-A
• COSMIC: COSM3970516 ; COSM3970517
• MyVariant Identifiers: chr18:g.28650804G>A (hg19) ; chr18:g.31070838G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31070838G>A , CM000680.2:g.31070838G>A	GRCh38
NC_000018.9:g.28650804G>A , CM000680.1:g.28650804G>A	GRCh37
NC_000018.8:g.26904802G>A	NCBI36
NG_008208.2:g.36588C>T , LRG_400:g.36588C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.1709C>T	ENSP00000507826.1:p.Thr570Met
ENST00000251081.8:c.2138C>T	ENSP00000251081.6:p.Thr713Met
ENST00000280904.11:c.2138C>T MANE Select	ENSP00000280904.6:p.Thr713Met
ENST00000648081.1:c.1709C>T	ENSP00000497441.1:p.Thr570Met
ENST00000251081.6:c.2138C>T	ENSP00000251081.6:p.Thr713Met
ENST00000280904.10:c.2138C>T	ENSP00000280904.6:p.Thr713Met
NM_004949.4:c.2138C>T	NP_004940.1:p.Thr713Met
NM_024422.4:c.2138C>T	NP_077740.1:p.Thr713Met
XM_005258206.3:c.1709C>T	XP_005258263.1:p.Thr570Met
XM_005258206.4:c.1709C>T	XP_005258263.1:p.Thr570Met
NM_004949.5:c.2138C>T	NP_004940.1:p.Thr713Met
NM_024422.6:c.2138C>T MANE Select	NP_077740.1:p.Thr713Met