Canonical Allele Identifier: CA216262223

Gene: IGF2 INS-IGF2

Linked Data

• dbSNP Id: rs920298169
• gnomAD v3: 11-2149042-C-A
• gnomAD v4: 11-2149042-C-A
• MyVariant Identifiers: chr11:g.2170272C>A (hg19) ; chr11:g.2149042C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2149042C>A , CM000673.2:g.2149042C>A	GRCh38
NC_000011.9:g.2170272C>A , CM000673.1:g.2170272C>A	GRCh37
NC_000011.8:g.2126848C>A	NCBI36
NG_008849.1:g.5562G>T
NG_050578.1:g.17168G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481781.3:c.-249+84G>T (IGF2)	ENSP00000511998.1:n.-249+84G>T
ENST00000643349.2:c.254+84G>T	ENSP00000495715.1:n.254+84G>T
ENST00000695541.1:c.-249+84G>T (IGF2)	ENSP00000511997.1:n.-249+84G>T
ENST00000481781.2:n.345+84G>T
ENST00000643349.1:c.254+84G>T	ENSP00000495715.1:n.254+84G>T
ENST00000356578.8:c.407+84G>T (INS-IGF2)	ENSP00000348986.4:n.407+84G>T
ENST00000397270.1:c.407+84G>T (INS-IGF2)	ENSP00000380440.1:n.407+84G>T
ENST00000476874.1:n.374G>T (INS-IGF2)
ENST00000481781.1:n.612+84G>T (INS-IGF2)
NM_001007139.5:c.-249+84G>T (IGF2)	NP_001007140.2:n.-249+84G>T
NM_001042376.2:c.407+84G>T (INS-IGF2)	NP_001035835.1:n.407+84G>T
NR_003512.3:n.466+84G>T (INS-IGF2)
NM_001042376.3:c.407+84G>T (INS-IGF2)	NP_001035835.1:n.407+84G>T
NR_003512.4:n.466+84G>T (INS-IGF2)
NM_001007139.6:c.-249+84G>T (IGF2)	NP_001007140.2:n.-249+84G>T