Canonical Allele Identifier: CA571905637

Gene: IGF2R

Linked Data

• dbSNP Id: rs1348815510
• gnomAD v2: 6-160453900-CTAAG-C
• gnomAD v3: 6-160032868-CTAAG-C
• gnomAD v4: 6-160032868-CTAAG-C
• MyVariant Identifiers: chr6:g.160453901_160453904del (hg19) ; chr6:g.160032869_160032872del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160032873_160032876del , CM000668.2:g.160032873_160032876del	GRCh38
NC_000006.11:g.160453905_160453908del , CM000668.1:g.160453905_160453908del	GRCh37
NC_000006.10:g.160373895_160373898del	NCBI36
NG_011785.3:g.68775_68778del
NG_011785.4:g.68775_68778del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356956.6:c.1046-69_1046-66del MANE Select	ENSP00000349437.1:n.1046-69_1046-66del
ENST00000649737.1:n.283-69_283-66del
ENST00000676781.1:c.1046-69_1046-66del	ENSP00000504419.1:n.1046-69_1046-66del
ENST00000677704.1:c.1046-69_1046-66del	ENSP00000503314.1:n.1046-69_1046-66del
ENST00000356956.5:c.1046-69_1046-66del	ENSP00000349437.1:n.1046-69_1046-66del
NM_000876.2:c.1046-69_1046-66del	NP_000867.2:n.1046-69_1046-66del
XR_942419.1:n.1061-69_1061-66del
NM_000876.3:c.1046-69_1046-66del	NP_000867.2:n.1046-69_1046-66del
NM_000876.4:c.1046-69_1046-66del MANE Select	NP_000867.3:n.1046-69_1046-66del