Canonical Allele Identifier: CA988890048
Gene: DSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1986791433
gnomAD v3: 18-31070661-T-C
gnomAD v4: 18-31070661-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31070661T>C , CM000680.2:g.31070661T>C GRCh38
NC_000018.9:g.28650627T>C , CM000680.1:g.28650627T>C GRCh37
NC_000018.8:g.26904625T>C NCBI36
NG_008208.2:g.36765A>G , LRG_400:g.36765A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682357.1:c.1821+65A>G ENSP00000507826.1:n.1821+65A>G
ENST00000251081.8:c.2250+65A>G ENSP00000251081.6:n.2250+65A>G
ENST00000280904.11:c.2250+65A>G MANE Select ENSP00000280904.6:n.2250+65A>G
ENST00000648081.1:c.1821+65A>G ENSP00000497441.1:n.1821+65A>G
ENST00000251081.6:c.2250+65A>G ENSP00000251081.6:n.2250+65A>G
ENST00000280904.10:c.2250+65A>G ENSP00000280904.6:n.2250+65A>G
NM_004949.4:c.2250+65A>G NP_004940.1:n.2250+65A>G
NM_024422.4:c.2250+65A>G NP_077740.1:n.2250+65A>G
XM_005258206.3:c.1821+65A>G XP_005258263.1:n.1821+65A>G
XM_005258206.4:c.1821+65A>G XP_005258263.1:n.1821+65A>G
NM_004949.5:c.2250+65A>G NP_004940.1:n.2250+65A>G
NM_024422.6:c.2250+65A>G MANE Select NP_077740.1:n.2250+65A>G
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