Canonical Allele Identifier: CA10651486

Gene: DSC2

Linked Data

• ClinVar Variation Id: 326371
• ClinVar RCV Id: RCV000304527
• dbSNP Id: rs886053687
• MyVariant Identifiers: chr18:g.28646855C>A (hg19) ; chr18:g.31066889C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31066889C>A , CM000680.2:g.31066889C>A	GRCh38
NC_000018.9:g.28646855C>A , CM000680.1:g.28646855C>A	GRCh37
NC_000018.8:g.26900853C>A	NCBI36
NG_008208.2:g.40537G>T , LRG_400:g.40537G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.*1126G>T	ENSP00000507826.1:n.*1126G>T
ENST00000251081.8:c.*1334G>T	ENSP00000251081.6:n.*1334G>T
ENST00000280904.11:c.*1126G>T MANE Select	ENSP00000280904.6:n.*1126G>T
ENST00000648081.1:c.*1126G>T	ENSP00000497441.1:n.*1126G>T
ENST00000251081.6:c.*1334G>T	ENSP00000251081.6:n.*1334G>T
ENST00000280904.10:c.*1126G>T	ENSP00000280904.6:n.*1126G>T
NM_004949.4:c.*1334G>T	NP_004940.1:n.*1334G>T
NM_024422.4:c.*1126G>T	NP_077740.1:n.*1126G>T
XM_005258206.3:c.*1126G>T	XP_005258263.1:n.*1126G>T
XM_005258206.4:c.*1126G>T	XP_005258263.1:n.*1126G>T
NM_004949.5:c.*1334G>T	NP_004940.1:n.*1334G>T
NM_024422.6:c.*1126G>T MANE Select	NP_077740.1:n.*1126G>T