Canonical Allele Identifier: CA988889876

Gene: DSC2

Linked Data

• dbSNP Id: rs2144837503
• gnomAD v3: 18-31089154-G-T
• gnomAD v4: 18-31089154-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089154G>T , CM000680.2:g.31089154G>T	GRCh38
NC_000018.9:g.28669117G>T , CM000680.1:g.28669117G>T	GRCh37
NC_000018.8:g.26923115G>T	NCBI36
NG_008208.2:g.18272C>A , LRG_400:g.18272C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.201+285C>A	ENSP00000507826.1:n.201+285C>A
ENST00000251081.8:c.630+285C>A	ENSP00000251081.6:n.630+285C>A
ENST00000280904.11:c.630+285C>A MANE Select	ENSP00000280904.6:n.630+285C>A
ENST00000648081.1:c.201+285C>A	ENSP00000497441.1:n.201+285C>A
ENST00000251081.6:c.630+285C>A	ENSP00000251081.6:n.630+285C>A
ENST00000280904.10:c.630+285C>A	ENSP00000280904.6:n.630+285C>A
NM_004949.4:c.630+285C>A	NP_004940.1:n.630+285C>A
NM_024422.4:c.630+285C>A	NP_077740.1:n.630+285C>A
XM_005258206.3:c.201+285C>A	XP_005258263.1:n.201+285C>A
XM_005258206.4:c.201+285C>A	XP_005258263.1:n.201+285C>A
NM_004949.5:c.630+285C>A	NP_004940.1:n.630+285C>A
NM_024422.6:c.630+285C>A MANE Select	NP_077740.1:n.630+285C>A