Canonical Allele Identifier: CA1096517271

Gene: IGF2R

Linked Data

• dbSNP Id: rs1778867021
• gnomAD v3: 6-160076946-T-TTG
• gnomAD v4: 6-160076946-T-TTG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160076948_160076949dup , CM000668.2:g.160076948_160076949dup	GRCh38
NC_000006.11:g.160497980_160497981dup , CM000668.1:g.160497980_160497981dup	GRCh37
NC_000006.10:g.160417970_160417971dup	NCBI36
NG_011785.3:g.112850_112851dup
NG_011785.4:g.112850_112851dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356956.6:c.5316+952_5316+953dup MANE Select	ENSP00000349437.1:n.5316+952_5316+953dup
ENST00000650503.1:n.1926+952_1926+953dup
ENST00000676781.1:c.*3424+952_*3424+953dup	ENSP00000504419.1:n.*3424+952_*3424+953dup
ENST00000677704.1:c.*1187+952_*1187+953dup	ENSP00000503314.1:n.*1187+952_*1187+953dup
ENST00000356956.5:c.5316+952_5316+953dup	ENSP00000349437.1:n.5316+952_5316+953dup
NM_000876.2:c.5316+952_5316+953dup	NP_000867.2:n.5316+952_5316+953dup
NM_000876.3:c.5316+952_5316+953dup	NP_000867.2:n.5316+952_5316+953dup
NM_000876.4:c.5316+952_5316+953dup MANE Select	NP_000867.3:n.5316+952_5316+953dup