Canonical Allele Identifier: CA296784832

Gene: PTPN2

Linked Data

• dbSNP Id: rs914725948
• gnomAD v2: 18-12877000-A-G
• gnomAD v3: 18-12877001-A-G
• gnomAD v4: 18-12877001-A-G
• MyVariant Identifiers: chr18:g.12877000A>G (hg19) ; chr18:g.12877001A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12877001A>G , CM000680.2:g.12877001A>G	GRCh38
NC_000018.9:g.12877000A>G , CM000680.1:g.12877000A>G	GRCh37
NC_000018.8:g.12867000A>G	NCBI36
NG_029116.1:g.12335T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309660.10:c.69+7072T>C MANE Select	ENSP00000311857.3:n.69+7072T>C
ENST00000643397.1:n.197+3495T>C
ENST00000645191.1:c.-347-4732T>C	ENSP00000493693.1:n.-347-4732T>C
ENST00000645816.1:c.69+7072T>C	ENSP00000494336.1:n.69+7072T>C
ENST00000646492.1:c.-327+6617T>C	ENSP00000496181.1:n.-327+6617T>C
ENST00000309660.9:c.69+7072T>C	ENSP00000311857.3:n.69+7072T>C
ENST00000327283.7:c.69+7072T>C	ENSP00000320298.3:n.69+7072T>C
ENST00000353319.8:c.69+7072T>C	ENSP00000320546.3:n.69+7072T>C
ENST00000589216.1:c.69+7072T>C	ENSP00000468408.1:n.69+7072T>C
ENST00000591115.5:c.69+7072T>C	ENSP00000466936.1:n.69+7072T>C
ENST00000591305.5:c.69+7072T>C	ENSP00000468012.1:n.69+7072T>C
ENST00000592059.5:c.-228-17747T>C	ENSP00000466206.1:n.-228-17747T>C
ENST00000592776.1:c.69+7072T>C	ENSP00000468155.1:n.69+7072T>C
NM_001207013.1:c.69+7072T>C	NP_001193942.1:n.69+7072T>C
NM_002828.3:c.69+7072T>C	NP_002819.2:n.69+7072T>C
NM_080422.2:c.69+7072T>C	NP_536347.1:n.69+7072T>C
NM_080423.2:c.69+7072T>C	NP_536348.1:n.69+7072T>C
XM_005258124.2:c.69+7072T>C	XP_005258181.1:n.69+7072T>C
XM_005258125.2:c.69+7072T>C	XP_005258182.1:n.69+7072T>C
XM_011525706.1:c.69+7072T>C	XP_011524008.1:n.69+7072T>C
XM_005258124.4:c.69+7072T>C	XP_005258181.1:n.69+7072T>C
XM_005258125.4:c.69+7072T>C	XP_005258182.1:n.69+7072T>C
XM_011525706.2:c.69+7072T>C	XP_011524008.1:n.69+7072T>C
XM_017025884.1:c.69+7072T>C	XP_016881373.1:n.69+7072T>C
XM_017025886.1:c.-138+7072T>C	XP_016881375.1:n.-138+7072T>C
XM_017025887.2:c.-138+7072T>C	XP_016881376.1:n.-138+7072T>C
XM_017025888.2:c.-138+7072T>C	XP_016881377.1:n.-138+7072T>C
XM_024451228.1:c.69+7072T>C	XP_024306996.1:n.69+7072T>C
NM_002828.4:c.69+7072T>C MANE Select	NP_002819.2:n.69+7072T>C
NM_001207013.2:c.69+7072T>C	NP_001193942.1:n.69+7072T>C
NM_080422.3:c.69+7072T>C	NP_536347.1:n.69+7072T>C
NM_080423.3:c.69+7072T>C	NP_536348.1:n.69+7072T>C