Canonical Allele Identifier: CA404800194
Gene: PIK3R2 HGNC NCBI

Linked Data

dbSNP Id: rs750768114
MyVariant Identifiers: chr19:g.18266816G>C (hg19) chr19:g.18156006G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18156006G>C , CM000681.2:g.18156006G>C GRCh38
NC_000019.9:g.18266816G>C , CM000681.1:g.18266816G>C GRCh37
NC_000019.8:g.18127816G>C NCBI36
NG_033010.1:g.7829G>C
NG_033010.2:g.7829G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222254.13:c.127G>C MANE Select ENSP00000222254.6:p.Val43Leu
ENST00000617130.5:c.127G>C ENSP00000477864.2:p.Val43Leu
ENST00000617642.2:c.127G>C ENSP00000484714.2:p.Val43Leu
ENST00000222254.12:c.127G>C ENSP00000222254.6:p.Val43Leu
ENST00000426902.5:c.127G>C ENSP00000395636.1:p.Val43Leu
ENST00000593731.1:c.127G>C ENSP00000471914.1:p.Val43Leu
ENST00000617130.4:c.127G>C ENSP00000477864.1:p.Val43Leu
ENST00000617642.1:c.127G>C ENSP00000484714.1:p.Val43Leu
NM_005027.3:c.127G>C NP_005018.1:p.Val43Leu
NR_073517.1:n.667G>C
NM_005027.4:c.127G>C MANE Select NP_005018.2:p.Val43Leu
NR_073517.2:n.682G>C
NR_162071.1:n.682G>C
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