Canonical Allele Identifier: CA216260145

Linked Data

dbSNP Id: rs911080205
gnomAD v3: 11-2146029-G-A
gnomAD v4: 11-2146029-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2146029G>A , CM000673.2:g.2146029G>A GRCh38
NC_000011.9:g.2167259G>A , CM000673.1:g.2167259G>A GRCh37
NC_000011.8:g.2123835G>A NCBI36
NG_008849.1:g.8575C>T
NG_050578.1:g.20181C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000481781.3:c.-7+1537C>T (IGF2) ENSP00000511998.1:n.-7+1537C>T
ENST00000643349.2:c.*46+1537C>T ENSP00000495715.1:n.*46+1537C>T
ENST00000695541.1:c.-7+1537C>T (IGF2) ENSP00000511997.1:n.-7+1537C>T
ENST00000643349.1:c.*46+1537C>T ENSP00000495715.1:n.*46+1537C>T
ENST00000356578.8:c.*46+1537C>T (INS-IGF2) ENSP00000348986.4:n.*46+1537C>T
NM_001007139.5:c.-7+1537C>T (IGF2) NP_001007140.2:n.-7+1537C>T
NR_003512.3:n.708+1537C>T (INS-IGF2)
NR_028043.2:n.437-216G>A (IGF2-AS)
NR_133657.1:n.437-327G>A (IGF2-AS)
NR_003512.4:n.708+1537C>T (INS-IGF2)
NM_001007139.6:c.-7+1537C>T (IGF2) NP_001007140.2:n.-7+1537C>T