Canonical Allele Identifier: CA571905633

Gene: IGF2R

Linked Data

• dbSNP Id: rs1182076235
• gnomAD v2: 6-160453789-G-C
• gnomAD v4: 6-160032757-G-C
• MyVariant Identifiers: chr6:g.160453789G>C (hg19) ; chr6:g.160032757G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160032757G>C , CM000668.2:g.160032757G>C	GRCh38
NC_000006.11:g.160453789G>C , CM000668.1:g.160453789G>C	GRCh37
NC_000006.10:g.160373779G>C	NCBI36
NG_011785.3:g.68659G>C
NG_011785.4:g.68659G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356956.6:c.1045+44G>C MANE Select	ENSP00000349437.1:n.1045+44G>C
ENST00000649737.1:n.282+44G>C
ENST00000676781.1:c.1045+44G>C	ENSP00000504419.1:n.1045+44G>C
ENST00000677704.1:c.1045+44G>C	ENSP00000503314.1:n.1045+44G>C
ENST00000356956.5:c.1045+44G>C	ENSP00000349437.1:n.1045+44G>C
NM_000876.2:c.1045+44G>C	NP_000867.2:n.1045+44G>C
XR_942419.1:n.1060+44G>C
NM_000876.3:c.1045+44G>C	NP_000867.2:n.1045+44G>C
NM_000876.4:c.1045+44G>C MANE Select	NP_000867.3:n.1045+44G>C