Canonical Allele Identifier: CA2293646610
Gene: DSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1986791639
gnomAD v4: 18-31070664-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31070664A>G , CM000680.2:g.31070664A>G GRCh38
NC_000018.9:g.28650630A>G , CM000680.1:g.28650630A>G GRCh37
NC_000018.8:g.26904628A>G NCBI36
NG_008208.2:g.36762T>C , LRG_400:g.36762T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682357.1:c.1821+62T>C ENSP00000507826.1:n.1821+62T>C
ENST00000251081.8:c.2250+62T>C ENSP00000251081.6:n.2250+62T>C
ENST00000280904.11:c.2250+62T>C MANE Select ENSP00000280904.6:n.2250+62T>C
ENST00000648081.1:c.1821+62T>C ENSP00000497441.1:n.1821+62T>C
ENST00000251081.6:c.2250+62T>C ENSP00000251081.6:n.2250+62T>C
ENST00000280904.10:c.2250+62T>C ENSP00000280904.6:n.2250+62T>C
NM_004949.4:c.2250+62T>C NP_004940.1:n.2250+62T>C
NM_024422.4:c.2250+62T>C NP_077740.1:n.2250+62T>C
XM_005258206.3:c.1821+62T>C XP_005258263.1:n.1821+62T>C
XM_005258206.4:c.1821+62T>C XP_005258263.1:n.1821+62T>C
NM_004949.5:c.2250+62T>C NP_004940.1:n.2250+62T>C
NM_024422.6:c.2250+62T>C MANE Select NP_077740.1:n.2250+62T>C
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