Canonical Allele Identifier: CA776219228

Gene: PTPN2

Linked Data

• dbSNP Id: rs1216374821
• gnomAD v3: 18-12809223-G-A
• gnomAD v4: 18-12809223-G-A
• MyVariant Identifiers: chr18:g.12809222G>A (hg19) ; chr18:g.12809223G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12809223G>A , CM000680.2:g.12809223G>A	GRCh38
NC_000018.9:g.12809222G>A , CM000680.1:g.12809222G>A	GRCh37
NC_000018.8:g.12799222G>A	NCBI36
NG_029116.1:g.80113C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309660.10:c.858+4980C>T MANE Select	ENSP00000311857.3:n.858+4980C>T
ENST00000645191.1:c.561+4980C>T	ENSP00000493693.1:n.561+4980C>T
ENST00000645816.1:c.*447+4980C>T	ENSP00000494336.1:n.*447+4980C>T
ENST00000646492.1:c.561+4980C>T	ENSP00000496181.1:n.561+4980C>T
ENST00000309660.9:c.858+4980C>T	ENSP00000311857.3:n.858+4980C>T
ENST00000327283.7:c.858+4980C>T	ENSP00000320298.3:n.858+4980C>T
ENST00000353319.8:c.858+4980C>T	ENSP00000320546.3:n.858+4980C>T
ENST00000585666.5:c.103+4980C>T
ENST00000587703.5:c.134-7072C>T
ENST00000591115.5:c.927+4980C>T	ENSP00000466936.1:n.927+4980C>T
ENST00000591305.5:c.*503+4980C>T	ENSP00000468012.1:n.*503+4980C>T
ENST00000591497.5:c.771+4980C>T	ENSP00000467823.1:n.771+4980C>T
NM_001207013.1:c.927+4980C>T	NP_001193942.1:n.927+4980C>T
NM_001308287.1:c.771+4980C>T	NP_001295216.1:n.771+4980C>T
NM_002828.3:c.858+4980C>T	NP_002819.2:n.858+4980C>T
NM_080422.2:c.858+4980C>T	NP_536347.1:n.858+4980C>T
NM_080423.2:c.858+4980C>T	NP_536348.1:n.858+4980C>T
XM_005258124.2:c.927+4980C>T	XP_005258181.1:n.927+4980C>T
XM_005258125.2:c.927+4980C>T	XP_005258182.1:n.927+4980C>T
XM_011525705.1:c.840+4980C>T	XP_011524007.1:n.840+4980C>T
XM_011525706.1:c.723+4980C>T	XP_011524008.1:n.723+4980C>T
XM_011525707.1:c.390+4980C>T	XP_011524009.1:n.390+4980C>T
XM_005258124.4:c.927+4980C>T	XP_005258181.1:n.927+4980C>T
XM_005258125.4:c.927+4980C>T	XP_005258182.1:n.927+4980C>T
XM_011525705.3:c.840+4980C>T	XP_011524007.1:n.840+4980C>T
XM_011525706.2:c.723+4980C>T	XP_011524008.1:n.723+4980C>T
XM_011525707.2:c.390+4980C>T	XP_011524009.1:n.390+4980C>T
XM_017025884.1:c.858+4980C>T	XP_016881373.1:n.858+4980C>T
XM_017025885.2:c.771+4980C>T	XP_016881374.1:n.771+4980C>T
XM_017025886.1:c.561+4980C>T	XP_016881375.1:n.561+4980C>T
XM_017025887.2:c.561+4980C>T	XP_016881376.1:n.561+4980C>T
XM_017025888.2:c.561+4980C>T	XP_016881377.1:n.561+4980C>T
XM_024451228.1:c.723+4980C>T	XP_024306996.1:n.723+4980C>T
XM_024451229.1:c.561+4980C>T	XP_024306997.1:n.561+4980C>T
XM_024451230.1:c.561+4980C>T	XP_024306998.1:n.561+4980C>T
NM_002828.4:c.858+4980C>T MANE Select	NP_002819.2:n.858+4980C>T
NM_001207013.2:c.927+4980C>T	NP_001193942.1:n.927+4980C>T
NM_080422.3:c.858+4980C>T	NP_536347.1:n.858+4980C>T
NM_080423.3:c.858+4980C>T	NP_536348.1:n.858+4980C>T