Canonical Allele Identifier: CA2293654195
Community Standard Title: NM_024422.6(DSC2):c.631-2A=
Gene: DSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31087815T= , CM000680.2:g.31087815T= GRCh38
NC_000018.9:g.28667778T= , CM000680.1:g.28667778T= GRCh37
NC_000018.8:g.26921776T= NCBI36
NG_008208.2:g.19611A= , LRG_400:g.19611A=

Transcript Alleles

HGVS Amino-acid Change
NM_024422.6:c.631-2A= MANE Select NP_077740.1:n.631-2A=
ENST00000280904.11:c.631-2A= MANE Select ENSP00000280904.6:n.631-2A=
NM_004949.4:c.631-2A= NP_004940.1:n.631-2A=
NM_004949.5:c.631-2A= NP_004940.1:n.631-2A=
NM_024422.4:c.631-2A= NP_077740.1:n.631-2A=
ENST00000251081.6:c.631-2A= ENSP00000251081.6:n.631-2A=
ENST00000251081.8:c.631-2A= ENSP00000251081.6:n.631-2A=
ENST00000280904.10:c.631-2A= ENSP00000280904.6:n.631-2A=
ENST00000648081.1:c.202-2A= ENSP00000497441.1:n.202-2A=
ENST00000682357.1:c.202-2A= ENSP00000507826.1:n.202-2A=
XM_005258206.3:c.202-2A= XP_005258263.1:n.202-2A=
XM_005258206.4:c.202-2A= XP_005258263.1:n.202-2A=