Canonical Allele Identifier: CA297641621

Gene: DSC2

Linked Data

• dbSNP Id: rs549527857
• gnomAD v2: 18-28669177-A-G
• gnomAD v3: 18-31089214-A-G
• gnomAD v4: 18-31089214-A-G
• MyVariant Identifiers: chr18:g.28669177A>G (hg19) ; chr18:g.31089214A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089214A>G , CM000680.2:g.31089214A>G	GRCh38
NC_000018.9:g.28669177A>G , CM000680.1:g.28669177A>G	GRCh37
NC_000018.8:g.26923175A>G	NCBI36
NG_008208.2:g.18212T>C , LRG_400:g.18212T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.201+225T>C	ENSP00000507826.1:n.201+225T>C
ENST00000251081.8:c.630+225T>C	ENSP00000251081.6:n.630+225T>C
ENST00000280904.11:c.630+225T>C MANE Select	ENSP00000280904.6:n.630+225T>C
ENST00000648081.1:c.201+225T>C	ENSP00000497441.1:n.201+225T>C
ENST00000251081.6:c.630+225T>C	ENSP00000251081.6:n.630+225T>C
ENST00000280904.10:c.630+225T>C	ENSP00000280904.6:n.630+225T>C
NM_004949.4:c.630+225T>C	NP_004940.1:n.630+225T>C
NM_024422.4:c.630+225T>C	NP_077740.1:n.630+225T>C
XM_005258206.3:c.201+225T>C	XP_005258263.1:n.201+225T>C
XM_005258206.4:c.201+225T>C	XP_005258263.1:n.201+225T>C
NM_004949.5:c.630+225T>C	NP_004940.1:n.630+225T>C
NM_024422.6:c.630+225T>C MANE Select	NP_077740.1:n.630+225T>C