Canonical Allele Identifier: CA357790276

Gene: PPA2

Linked Data

• gnomAD v4: 4-105399042-T-G
• MyVariant Identifiers: chr4:g.106320199T>G (hg19) ; chr4:g.105399042T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.105399042T>G , CM000666.2:g.105399042T>G	GRCh38
NC_000004.11:g.106320199T>G , CM000666.1:g.106320199T>G	GRCh37
NC_000004.10:g.106539648T>G	NCBI36
NG_053007.1:g.80029A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000341695.10:c.778A>C MANE Select	ENSP00000343885.5:p.Asn260His
ENST00000341695.9:c.778A>C	ENSP00000343885.5:p.Asn260His
ENST00000348706.9:c.691A>C	ENSP00000313061.8:p.Asn231His
ENST00000351450.10:c.*500A>C	ENSP00000273977.9:n.*500A>C
ENST00000354147.7:c.280A>C	ENSP00000340352.3:p.Asn94His
ENST00000432483.6:c.472A>C	ENSP00000389957.2:p.Asn158His
ENST00000503171.5:n.470A>C
ENST00000509031.5:c.*537A>C	ENSP00000423467.1:n.*537A>C
ENST00000509426.5:n.787A>C
ENST00000510015.5:c.559A>C	ENSP00000423363.1:p.Asn187His
ENST00000513605.5:n.595A>C
ENST00000515567.5:c.143-28169A>C
NM_006903.4:c.691A>C	NP_008834.3:p.Asn231His
NM_176866.2:c.472A>C	NP_789842.2:p.Asn158His
NM_176867.3:c.280A>C	NP_789843.2:p.Asn94His
NM_176869.2:c.778A>C	NP_789845.1:p.Asn260His
NM_176869.3:c.778A>C MANE Select	NP_789845.1:p.Asn260His