Canonical Allele Identifier: CA357790310

Gene: PPA2

Linked Data

• MyVariant Identifiers: chr4:g.106320203G>C (hg19) ; chr4:g.105399046G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.105399046G>C , CM000666.2:g.105399046G>C	GRCh38
NC_000004.11:g.106320203G>C , CM000666.1:g.106320203G>C	GRCh37
NC_000004.10:g.106539652G>C	NCBI36
NG_053007.1:g.80025C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000341695.10:c.774C>G MANE Select	ENSP00000343885.5:p.Phe258Leu
ENST00000341695.9:c.774C>G	ENSP00000343885.5:p.Phe258Leu
ENST00000348706.9:c.687C>G	ENSP00000313061.8:p.Phe229Leu
ENST00000351450.10:c.*496C>G	ENSP00000273977.9:n.*496C>G
ENST00000354147.7:c.276C>G	ENSP00000340352.3:p.Phe92Leu
ENST00000432483.6:c.468C>G	ENSP00000389957.2:p.Phe156Leu
ENST00000503171.5:n.466C>G
ENST00000509031.5:c.*533C>G	ENSP00000423467.1:n.*533C>G
ENST00000509426.5:n.783C>G
ENST00000510015.5:c.555C>G	ENSP00000423363.1:p.Phe185Leu
ENST00000513605.5:n.591C>G
ENST00000515567.5:c.143-28173C>G
NM_006903.4:c.687C>G	NP_008834.3:p.Phe229Leu
NM_176866.2:c.468C>G	NP_789842.2:p.Phe156Leu
NM_176867.3:c.276C>G	NP_789843.2:p.Phe92Leu
NM_176869.2:c.774C>G	NP_789845.1:p.Phe258Leu
NM_176869.3:c.774C>G MANE Select	NP_789845.1:p.Phe258Leu