Canonical Allele Identifier: CA353506278
Community Standard Title: NM_018029.4(EBLN2):c.187G>T (p.Asp63Tyr)
Gene: PPP4R2 HGNC NCBI
EBLN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.73062268G>T , CM000665.2:g.73062268G>T GRCh38
NC_000003.11:g.73111419G>T , CM000665.1:g.73111419G>T GRCh37
NC_000003.10:g.73194109G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_018029.4:c.187G>T (EBLN2) MANE Select NP_060499.3:p.Asp63Tyr
NM_174907.4:c.419+1208G>T (PPP4R2) MANE Select NP_777567.1:n.419+1208G>T
ENST00000356692.10:c.419+1208G>T (PPP4R2) MANE Select ENSP00000349124.5:n.419+1208G>T
ENST00000533473.1:c.187G>T (EBLN2) MANE Select ENSP00000432104.1:p.Asp63Tyr
NM_001318025.1:c.248+1208G>T (PPP4R2) NP_001304954.1:n.248+1208G>T
NM_001318025.2:c.248+1208G>T (PPP4R2) NP_001304954.1:n.248+1208G>T
NM_001318026.1:c.305+1208G>T (PPP4R2) NP_001304955.1:n.305+1208G>T
NM_001318026.2:c.305+1208G>T (PPP4R2) NP_001304955.1:n.305+1208G>T
NM_001318027.1:c.-33+1208G>T (PPP4R2) NP_001304956.1:n.-33+1208G>T
NM_001318027.2:c.-33+1208G>T (PPP4R2) NP_001304956.1:n.-33+1208G>T
NM_174907.2:c.419+1208G>T (PPP4R2) NP_777567.1:n.419+1208G>T
NM_174907.3:c.419+1208G>T (PPP4R2) NP_777567.1:n.419+1208G>T
ENST00000356692.9:c.419+1208G>T (PPP4R2) ENSP00000349124.5:n.419+1208G>T
ENST00000482242.5:c.248+1208G>T (PPP4R2) ENSP00000418568.1:n.248+1208G>T
ENST00000488810.5:c.419+1208G>T (PPP4R2) ENSP00000418750.1:n.419+1208G>T
ENST00000710398.1:c.524+1208G>T (PPP4R2) ENSP00000518252.1:n.524+1208G>T