Canonical Allele Identifier: CA032464

Gene: DSC2

Linked Data

• dbSNP Id: rs773811174
• ExAC: 18:28659821 G / C
• gnomAD v2: 18-28659821-G-C
• gnomAD v4: 18-31079855-G-C
• MyVariant Identifiers: chr18:g.28659821G>C (hg19) ; chr18:g.31079855G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31079855G>C , CM000680.2:g.31079855G>C	GRCh38
NC_000018.9:g.28659821G>C , CM000680.1:g.28659821G>C	GRCh37
NC_000018.8:g.26913819G>C	NCBI36
NG_008208.2:g.27571C>G , LRG_400:g.27571C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.1226C>G	ENSP00000507826.1:p.Ser409Ter
ENST00000251081.8:c.1655C>G	ENSP00000251081.6:p.Ser552Ter
ENST00000280904.11:c.1655C>G MANE Select	ENSP00000280904.6:p.Ser552Ter
ENST00000648081.1:c.1226C>G	ENSP00000497441.1:p.Ser409Ter
ENST00000251081.6:c.1655C>G	ENSP00000251081.6:p.Ser552Ter
ENST00000280904.10:c.1655C>G	ENSP00000280904.6:p.Ser552Ter
NM_004949.4:c.1655C>G	NP_004940.1:p.Ser552Ter
NM_024422.4:c.1655C>G	NP_077740.1:p.Ser552Ter
XM_005258206.3:c.1226C>G	XP_005258263.1:p.Ser409Ter
XM_005258206.4:c.1226C>G	XP_005258263.1:p.Ser409Ter
NM_004949.5:c.1655C>G	NP_004940.1:p.Ser552Ter
NM_024422.6:c.1655C>G MANE Select	NP_077740.1:p.Ser552Ter