Canonical Allele Identifier: CA1139864044
Community Standard Title: NM_015967.8(PTPN22):c.2054-852T=
Gene: PTPN22 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113830881A= , CM000663.2:g.113830881A= GRCh38
NC_000001.10:g.114373503A= , CM000663.1:g.114373503A= GRCh37
NC_000001.9:g.114175026A= NCBI36
NG_011432.1:g.45873T=

Transcript Alleles

HGVS Amino-acid Change
NM_015967.8:c.2054-852T= (PTPN22) MANE Select NP_057051.4:n.2054-852T=
ENST00000359785.10:c.2054-852T= (PTPN22) MANE Select ENSP00000352833.5:n.2054-852T=
NM_001193431.1:c.1970-852T= (PTPN22) NP_001180360.1:n.1970-852T=
NM_001193431.2:c.1970-852T= (PTPN22) NP_001180360.1:n.1970-852T=
NM_001308297.1:c.1982-852T= (PTPN22) NP_001295226.1:n.1982-852T=
NM_012411.4:c.1889-852T= (PTPN22) NP_036543.4:n.1889-852T=
NM_012411.5:c.1889-852T= (PTPN22) NP_036543.4:n.1889-852T=
NM_015967.5:c.2054-852T= (PTPN22) NP_057051.3:n.2054-852T=
NM_015967.6:c.2054-852T= (PTPN22) NP_057051.3:n.2054-852T=
NM_015967.7:c.2054-852T= (PTPN22) NP_057051.3:n.2054-852T=
NR_125965.1:n.414+15409A= (AP4B1-AS1)
ENST00000359785.9:c.2054-852T= (PTPN22) ENSP00000352833.5:n.2054-852T=
ENST00000420377.6:c.2054-852T= (PTPN22) ENSP00000388229.2:n.2054-852T=
ENST00000460620.5:c.469-11227T= (PTPN22) ENSP00000433141.1:n.469-11227T=
ENST00000525799.1:c.1673-852T= (PTPN22) ENSP00000432674.1:n.1673-852T=
ENST00000528414.5:c.1889-852T= (PTPN22) ENSP00000435176.1:n.1889-852T=
ENST00000532224.5:c.*1332-852T= (PTPN22) ENSP00000431249.1:n.*1332-852T=
ENST00000538253.5:c.1982-852T= (PTPN22) ENSP00000439372.2:n.1982-852T=
XM_011541221.1:c.1976-852T= (PTPN22) XP_011539523.1:n.1976-852T=
XM_011541222.1:c.2054-852T= (PTPN22) XP_011539524.1:n.2054-852T=
XM_011541223.1:c.*704T= (PTPN22) XP_011539525.1:n.*704T=
XM_011541223.2:c.*704T= (PTPN22) XP_011539525.1:n.*704T=
XM_011541224.1:c.1610-852T= (PTPN22) XP_011539526.1:n.1610-852T=
XM_011541225.1:c.1982-852T= (PTPN22) XP_011539527.1:n.1982-852T=
XM_011541225.2:c.1982-852T= (PTPN22) XP_011539527.1:n.1982-852T=
XM_017001004.1:c.2054-852T= (PTPN22) XP_016856493.1:n.2054-852T=
XM_017001005.2:c.1709-852T= (PTPN22) XP_016856494.1:n.1709-852T=