Canonical Allele Identifier: CA3229117698
Community Standard Title: NM_024422.6(DSC2):c.473A= (p.Gln158=)
Gene: DSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31091029T= , CM000680.2:g.31091029T= GRCh38
NC_000018.9:g.28670992T= , CM000680.1:g.28670992T= GRCh37
NC_000018.8:g.26924990T= NCBI36
NG_008208.2:g.16397A= , LRG_400:g.16397A=

Transcript Alleles

HGVS Amino-acid Change
NM_024422.6:c.473A= MANE Select NP_077740.1:p.Gln158=
ENST00000280904.11:c.473A= MANE Select ENSP00000280904.6:p.Gln158=
NM_004949.4:c.473A= NP_004940.1:p.Gln158=
NM_004949.5:c.473A= NP_004940.1:p.Gln158=
NM_024422.4:c.473A= NP_077740.1:p.Gln158=
ENST00000251081.6:c.473A= ENSP00000251081.6:p.Gln158=
ENST00000251081.8:c.473A= ENSP00000251081.6:p.Gln158=
ENST00000280904.10:c.473A= ENSP00000280904.6:p.Gln158=
ENST00000648081.1:c.44A= ENSP00000497441.1:p.Gln15=
ENST00000682357.1:c.44A= ENSP00000507826.1:p.Gln15=
XM_005258206.3:c.44A= XP_005258263.1:p.Gln15=
XM_005258206.4:c.44A= XP_005258263.1:p.Gln15=