Canonical Allele Identifier: CA571905636

Gene: IGF2R

Linked Data

• dbSNP Id: rs552581243
• gnomAD v2: 6-160453806-C-A
• gnomAD v3: 6-160032774-C-A
• gnomAD v4: 6-160032774-C-A
• MyVariant Identifiers: chr6:g.160453806C>A (hg19) ; chr6:g.160032774C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160032774C>A , CM000668.2:g.160032774C>A	GRCh38
NC_000006.11:g.160453806C>A , CM000668.1:g.160453806C>A	GRCh37
NC_000006.10:g.160373796C>A	NCBI36
NG_011785.3:g.68676C>A
NG_011785.4:g.68676C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356956.6:c.1045+61C>A MANE Select	ENSP00000349437.1:n.1045+61C>A
ENST00000649737.1:n.282+61C>A
ENST00000676781.1:c.1045+61C>A	ENSP00000504419.1:n.1045+61C>A
ENST00000677704.1:c.1045+61C>A	ENSP00000503314.1:n.1045+61C>A
ENST00000356956.5:c.1045+61C>A	ENSP00000349437.1:n.1045+61C>A
NM_000876.2:c.1045+61C>A	NP_000867.2:n.1045+61C>A
XR_942419.1:n.1060+61C>A
NM_000876.3:c.1045+61C>A	NP_000867.2:n.1045+61C>A
NM_000876.4:c.1045+61C>A MANE Select	NP_000867.3:n.1045+61C>A