Canonical Allele Identifier: CA151141787

Gene: IGF2R

Linked Data

• dbSNP Id: rs563443950
• gnomAD v3: 6-160077044-C-T
• gnomAD v4: 6-160077044-C-T
• MyVariant Identifiers: chr6:g.160498076C>T (hg19) ; chr6:g.160077044C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160077044C>T , CM000668.2:g.160077044C>T	GRCh38
NC_000006.11:g.160498076C>T , CM000668.1:g.160498076C>T	GRCh37
NC_000006.10:g.160418066C>T	NCBI36
NG_011785.3:g.112946C>T
NG_011785.4:g.112946C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356956.6:c.5316+1048C>T MANE Select	ENSP00000349437.1:n.5316+1048C>T
ENST00000650503.1:n.1926+1048C>T
ENST00000676781.1:c.*3424+1048C>T	ENSP00000504419.1:n.*3424+1048C>T
ENST00000677704.1:c.*1187+1048C>T	ENSP00000503314.1:n.*1187+1048C>T
ENST00000356956.5:c.5316+1048C>T	ENSP00000349437.1:n.5316+1048C>T
NM_000876.2:c.5316+1048C>T	NP_000867.2:n.5316+1048C>T
NM_000876.3:c.5316+1048C>T	NP_000867.2:n.5316+1048C>T
NM_000876.4:c.5316+1048C>T MANE Select	NP_000867.3:n.5316+1048C>T