Canonical Allele Identifier: CA2518602079

Gene: DSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31067275A>G , CM000680.2:g.31067275A>G	GRCh38
NC_000018.9:g.28647241A>G , CM000680.1:g.28647241A>G	GRCh37
NC_000018.8:g.26901239A>G	NCBI36
NG_008208.2:g.40151T>C , LRG_400:g.40151T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.*740T>C	ENSP00000507826.1:n.*740T>C
ENST00000251081.8:c.*948T>C	ENSP00000251081.6:n.*948T>C
ENST00000280904.11:c.*740T>C MANE Select	ENSP00000280904.6:n.*740T>C
ENST00000648081.1:c.*740T>C	ENSP00000497441.1:n.*740T>C
ENST00000251081.6:c.*948T>C	ENSP00000251081.6:n.*948T>C
ENST00000280904.10:c.*740T>C	ENSP00000280904.6:n.*740T>C
NM_004949.4:c.*948T>C	NP_004940.1:n.*948T>C
NM_024422.4:c.*740T>C	NP_077740.1:n.*740T>C
XM_005258206.3:c.*740T>C	XP_005258263.1:n.*740T>C
XM_005258206.4:c.*740T>C	XP_005258263.1:n.*740T>C
NM_004949.5:c.*948T>C	NP_004940.1:n.*948T>C
NM_024422.6:c.*740T>C MANE Select	NP_077740.1:n.*740T>C