Canonical Allele Identifier: CA506108335
Gene: PIK3R2 HGNC NCBI

Linked Data

gnomAD v4: 19-18156191-C-G
MyVariant Identifiers: chr19:g.18267001C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18156191C>G , CM000681.2:g.18156191C>G GRCh38
NC_000019.9:g.18267001C>G , CM000681.1:g.18267001C>G GRCh37
NC_000019.8:g.18128001C>G NCBI36
NG_033010.1:g.8014C>G
NG_033010.2:g.8014C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222254.13:c.312C>G MANE Select ENSP00000222254.6:p.Ala104=
ENST00000617130.5:c.312C>G ENSP00000477864.2:p.Ala104=
ENST00000617642.2:c.312C>G ENSP00000484714.2:p.Ala104=
ENST00000222254.12:c.312C>G ENSP00000222254.6:p.Ala104=
ENST00000426902.5:c.312C>G ENSP00000395636.1:p.Ala104=
ENST00000593731.1:c.312C>G ENSP00000471914.1:p.Ala104=
ENST00000617130.4:c.312C>G ENSP00000477864.1:p.Ala104=
ENST00000617642.1:c.312C>G ENSP00000484714.1:p.Ala104=
NM_005027.3:c.312C>G NP_005018.1:p.Ala104=
NR_073517.1:n.852C>G
NM_005027.4:c.312C>G MANE Select NP_005018.2:p.Ala104=
NR_073517.2:n.867C>G
NR_162071.1:n.867C>G
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