Canonical Allele Identifier: CA402112135

Gene: DSC2

Linked Data

• ClinVar Variation Id: 536263
• ClinVar RCV Id: RCV000644628 ; RCV001185026 ; RCV002449034 ; RCV003325506 ; RCV004004055
• dbSNP Id: rs1217851416
• gnomAD v2: 18-28649110-G-A
• gnomAD v3: 18-31069144-G-A
• gnomAD v4: 18-31069144-G-A
• COSMIC: COSM2808879 ; COSM2808880
• MyVariant Identifiers: chr18:g.28649110G>A (hg19) ; chr18:g.31069144G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31069144G>A , CM000680.2:g.31069144G>A	GRCh38
NC_000018.9:g.28649110G>A , CM000680.1:g.28649110G>A	GRCh37
NC_000018.8:g.26903108G>A	NCBI36
NG_008208.2:g.38282C>T , LRG_400:g.38282C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.1829C>T	ENSP00000507826.1:p.Ala610Val
ENST00000251081.8:c.2258C>T	ENSP00000251081.6:p.Ala753Val
ENST00000280904.11:c.2258C>T MANE Select	ENSP00000280904.6:p.Ala753Val
ENST00000648081.1:c.1829C>T	ENSP00000497441.1:p.Ala610Val
ENST00000251081.6:c.2258C>T	ENSP00000251081.6:p.Ala753Val
ENST00000280904.10:c.2258C>T	ENSP00000280904.6:p.Ala753Val
NM_004949.4:c.2258C>T	NP_004940.1:p.Ala753Val
NM_024422.4:c.2258C>T	NP_077740.1:p.Ala753Val
XM_005258206.3:c.1829C>T	XP_005258263.1:p.Ala610Val
XM_005258206.4:c.1829C>T	XP_005258263.1:p.Ala610Val
NM_004949.5:c.2258C>T	NP_004940.1:p.Ala753Val
NM_024422.6:c.2258C>T MANE Select	NP_077740.1:p.Ala753Val