Canonical Allele Identifier: CA040835

Gene: DSC2

Linked Data

• dbSNP Id: rs760860730
• ExAC: 18:28663054 T / G
• gnomAD v2: 18-28663054-T-G
• gnomAD v4: 18-31083088-T-G
• MyVariant Identifiers: chr18:g.28663054T>G (hg19) ; chr18:g.31083088T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31083088T>G , CM000680.2:g.31083088T>G	GRCh38
NC_000018.9:g.28663054T>G , CM000680.1:g.28663054T>G	GRCh37
NC_000018.8:g.26917052T>G	NCBI36
NG_008208.2:g.24338A>C , LRG_400:g.24338A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.514-28A>C	ENSP00000507826.1:n.514-28A>C
ENST00000251081.8:c.943-28A>C	ENSP00000251081.6:n.943-28A>C
ENST00000280904.11:c.943-28A>C MANE Select	ENSP00000280904.6:n.943-28A>C
ENST00000648081.1:c.514-28A>C	ENSP00000497441.1:n.514-28A>C
ENST00000251081.6:c.943-28A>C	ENSP00000251081.6:n.943-28A>C
ENST00000280904.10:c.943-28A>C	ENSP00000280904.6:n.943-28A>C
NM_004949.4:c.943-28A>C	NP_004940.1:n.943-28A>C
NM_024422.4:c.943-28A>C	NP_077740.1:n.943-28A>C
XM_005258206.3:c.514-28A>C	XP_005258263.1:n.514-28A>C
XM_005258206.4:c.514-28A>C	XP_005258263.1:n.514-28A>C
NM_004949.5:c.943-28A>C	NP_004940.1:n.943-28A>C
NM_024422.6:c.943-28A>C MANE Select	NP_077740.1:n.943-28A>C