Canonical Allele Identifier: CA988889867

Gene: DSC2

Linked Data

• dbSNP Id: rs2144837461
• gnomAD v3: 18-31089143-T-G
• gnomAD v4: 18-31089143-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089143T>G , CM000680.2:g.31089143T>G	GRCh38
NC_000018.9:g.28669106T>G , CM000680.1:g.28669106T>G	GRCh37
NC_000018.8:g.26923104T>G	NCBI36
NG_008208.2:g.18283A>C , LRG_400:g.18283A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.201+296A>C	ENSP00000507826.1:n.201+296A>C
ENST00000251081.8:c.630+296A>C	ENSP00000251081.6:n.630+296A>C
ENST00000280904.11:c.630+296A>C MANE Select	ENSP00000280904.6:n.630+296A>C
ENST00000648081.1:c.201+296A>C	ENSP00000497441.1:n.201+296A>C
ENST00000251081.6:c.630+296A>C	ENSP00000251081.6:n.630+296A>C
ENST00000280904.10:c.630+296A>C	ENSP00000280904.6:n.630+296A>C
NM_004949.4:c.630+296A>C	NP_004940.1:n.630+296A>C
NM_024422.4:c.630+296A>C	NP_077740.1:n.630+296A>C
XM_005258206.3:c.201+296A>C	XP_005258263.1:n.201+296A>C
XM_005258206.4:c.201+296A>C	XP_005258263.1:n.201+296A>C
NM_004949.5:c.630+296A>C	NP_004940.1:n.630+296A>C
NM_024422.6:c.630+296A>C MANE Select	NP_077740.1:n.630+296A>C