LDH info

Canonical Allele Identifier: CA15711014
Gene: IGF2 HGNC NCBI
INS-IGF2 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1004446

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2148913G>A , CM000673.2:g.2148913G>A GRCh38
NC_000011.9:g.2170143G>A , CM000673.1:g.2170143G>A GRCh37
NC_000011.8:g.2126719G>A NCBI36
NG_008849.1:g.5691C>T
NG_050578.1:g.17297C>T

Transcript Alleles

HGVS Amino-acid change
NM_001007139.5:c.-249+213C>T (IGF2) VV NP_001007140.2:p.=
NM_001042376.2:c.407+213C>T (INS-IGF2) VV NP_001035835.1:p.=
NR_003512.3:n.466+213C>T (INS-IGF2)
NM_001042376.3:c.407+213C>T (INS-IGF2) VV NP_001035835.1:p.=
NR_003512.4:n.466+213C>T (INS-IGF2)
ENST00000356578.8:c.407+213C>T ENSP00000348986.4:p.=
ENST00000397270.1:c.407+213C>T ENSP00000380440.1:p.=
ENST00000481781.1:n.612+213C>T