Canonical Allele Identifier: CA2641388856

Gene: DSC2

Linked Data

• gnomAD v4: 18-31089321-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089321G>A , CM000680.2:g.31089321G>A	GRCh38
NC_000018.9:g.28669284G>A , CM000680.1:g.28669284G>A	GRCh37
NC_000018.8:g.26923282G>A	NCBI36
NG_008208.2:g.18105C>T , LRG_400:g.18105C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.201+118C>T	ENSP00000507826.1:n.201+118C>T
ENST00000251081.8:c.630+118C>T	ENSP00000251081.6:n.630+118C>T
ENST00000280904.11:c.630+118C>T MANE Select	ENSP00000280904.6:n.630+118C>T
ENST00000648081.1:c.201+118C>T	ENSP00000497441.1:n.201+118C>T
ENST00000251081.6:c.630+118C>T	ENSP00000251081.6:n.630+118C>T
ENST00000280904.10:c.630+118C>T	ENSP00000280904.6:n.630+118C>T
NM_004949.4:c.630+118C>T	NP_004940.1:n.630+118C>T
NM_024422.4:c.630+118C>T	NP_077740.1:n.630+118C>T
XM_005258206.3:c.201+118C>T	XP_005258263.1:n.201+118C>T
XM_005258206.4:c.201+118C>T	XP_005258263.1:n.201+118C>T
NM_004949.5:c.630+118C>T	NP_004940.1:n.630+118C>T
NM_024422.6:c.630+118C>T MANE Select	NP_077740.1:n.630+118C>T