Canonical Allele Identifier: CA151124232

Gene: IGF2R

Linked Data

• dbSNP Id: rs558068237
• gnomAD v2: 6-160430617-C-T
• gnomAD v3: 6-160009585-C-T
• gnomAD v4: 6-160009585-C-T
• MyVariant Identifiers: chr6:g.160430617C>T (hg19) ; chr6:g.160009585C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160009585C>T , CM000668.2:g.160009585C>T	GRCh38
NC_000006.11:g.160430617C>T , CM000668.1:g.160430617C>T	GRCh37
NC_000006.10:g.160350607C>T	NCBI36
NG_011785.3:g.45487C>T
NG_011785.4:g.45487C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356956.6:c.414+451C>T MANE Select	ENSP00000349437.1:n.414+451C>T
ENST00000676781.1:c.414+451C>T	ENSP00000504419.1:n.414+451C>T
ENST00000677704.1:c.414+451C>T	ENSP00000503314.1:n.414+451C>T
ENST00000356956.5:c.414+451C>T	ENSP00000349437.1:n.414+451C>T
NM_000876.2:c.414+451C>T	NP_000867.2:n.414+451C>T
XR_942419.1:n.429+451C>T
NM_000876.3:c.414+451C>T	NP_000867.2:n.414+451C>T
NM_000876.4:c.414+451C>T MANE Select	NP_000867.3:n.414+451C>T