Canonical Allele Identifier: CA022394

Gene: DSC2

Linked Data

• ClinVar Variation Id: 46160
• ClinVar RCV Id: RCV000039400 ; RCV000172527 ; RCV000157171 ; RCV000228131 ; RCV000210891 ; RCV000243453 ; RCV000770540
• dbSNP Id: rs139399951
• ExAC: 18:28662896 G / A
• gnomAD v2: 18-28662896-G-A
• gnomAD v3: 18-31082930-G-A
• gnomAD v4: 18-31082930-G-A
• MyVariant Identifiers: chr18:g.28662896G>A (hg19) ; chr18:g.31082930G>A (hg38)
• PubMed: PMID:18678517 ; PMID:23861362 ; PMID:24704780 ; PMID:25637381 ; PMID:27153395

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31082930G>A , CM000680.2:g.31082930G>A	GRCh38
NC_000018.9:g.28662896G>A , CM000680.1:g.28662896G>A	GRCh37
NC_000018.8:g.26916894G>A	NCBI36
NG_008208.2:g.24496C>T , LRG_400:g.24496C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.644C>T	ENSP00000507826.1:p.Thr215Ile
ENST00000251081.8:c.1073C>T	ENSP00000251081.6:p.Thr358Ile
ENST00000280904.11:c.1073C>T MANE Select	ENSP00000280904.6:p.Thr358Ile
ENST00000648081.1:c.644C>T	ENSP00000497441.1:p.Thr215Ile
ENST00000251081.6:c.1073C>T	ENSP00000251081.6:p.Thr358Ile
ENST00000280904.10:c.1073C>T	ENSP00000280904.6:p.Thr358Ile
NM_004949.4:c.1073C>T	NP_004940.1:p.Thr358Ile
NM_024422.4:c.1073C>T	NP_077740.1:p.Thr358Ile
XM_005258206.3:c.644C>T	XP_005258263.1:p.Thr215Ile
XM_005258206.4:c.644C>T	XP_005258263.1:p.Thr215Ile
NM_004949.5:c.1073C>T	NP_004940.1:p.Thr358Ile
NM_024422.6:c.1073C>T MANE Select	NP_077740.1:p.Thr358Ile