Canonical Allele Identifier: CA629136609

Gene: DSC2

Linked Data

• dbSNP Id: rs1987501394
• gnomAD v2: 18-28669126-T-TAAA
• gnomAD v3: 18-31089163-T-TAAA
• gnomAD v4: 18-31089163-T-TAAA
• MyVariant Identifiers: chr18:g.28669126_28669127insAAA (hg19) ; chr18:g.31089163_31089164insAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089163_31089164insAAA , CM000680.2:g.31089163_31089164insAAA	GRCh38
NC_000018.9:g.28669126_28669127insAAA , CM000680.1:g.28669126_28669127insAAA	GRCh37
NC_000018.8:g.26923124_26923125insAAA	NCBI36
NG_008208.2:g.18262_18263insTTT , LRG_400:g.18262_18263insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.201+275_201+276insTTT	ENSP00000507826.1:n.201+275_201+276insTTT
ENST00000251081.8:c.630+275_630+276insTTT	ENSP00000251081.6:n.630+275_630+276insTTT
ENST00000280904.11:c.630+275_630+276insTTT MANE Select	ENSP00000280904.6:n.630+275_630+276insTTT
ENST00000648081.1:c.201+275_201+276insTTT	ENSP00000497441.1:n.201+275_201+276insTTT
ENST00000251081.6:c.630+275_630+276insTTT	ENSP00000251081.6:n.630+275_630+276insTTT
ENST00000280904.10:c.630+275_630+276insTTT	ENSP00000280904.6:n.630+275_630+276insTTT
NM_004949.4:c.630+275_630+276insTTT	NP_004940.1:n.630+275_630+276insTTT
NM_024422.4:c.630+275_630+276insTTT	NP_077740.1:n.630+275_630+276insTTT
XM_005258206.3:c.201+275_201+276insTTT	XP_005258263.1:n.201+275_201+276insTTT
XM_005258206.4:c.201+275_201+276insTTT	XP_005258263.1:n.201+275_201+276insTTT
NM_004949.5:c.630+275_630+276insTTT	NP_004940.1:n.630+275_630+276insTTT
NM_024422.6:c.630+275_630+276insTTT MANE Select	NP_077740.1:n.630+275_630+276insTTT