Canonical Allele Identifier: CA296739687

Gene: PTPN2

Linked Data

• dbSNP Id: rs193261022
• gnomAD v2: 18-12797756-C-T
• gnomAD v3: 18-12797757-C-T
• gnomAD v4: 18-12797757-C-T
• MyVariant Identifiers: chr18:g.12797756C>T (hg19) ; chr18:g.12797757C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12797757C>T , CM000680.2:g.12797757C>T	GRCh38
NC_000018.9:g.12797756C>T , CM000680.1:g.12797756C>T	GRCh37
NC_000018.8:g.12787756C>T	NCBI36
NG_029116.1:g.91579G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000309660.10:c.1041-3272G>A MANE Select	ENSP00000311857.3:n.1041-3272G>A
ENST00000645191.1:c.744-3272G>A	ENSP00000493693.1:n.744-3272G>A
ENST00000645816.1:c.*630-3272G>A	ENSP00000494336.1:n.*630-3272G>A
ENST00000646492.1:c.744-3272G>A	ENSP00000496181.1:n.744-3272G>A
ENST00000309660.9:c.1041-3272G>A	ENSP00000311857.3:n.1041-3272G>A
ENST00000327283.7:c.1041-3272G>A	ENSP00000320298.3:n.1041-3272G>A
ENST00000353319.8:c.1040+4213G>A	ENSP00000320546.3:n.1040+4213G>A
ENST00000585666.5:c.286-3272G>A
ENST00000587703.5:c.316-3272G>A
ENST00000591115.5:c.1110-3272G>A	ENSP00000466936.1:n.1110-3272G>A
ENST00000591497.5:c.954-3272G>A	ENSP00000467823.1:n.954-3272G>A
ENST00000591901.5:c.185-3272G>A
NM_001207013.1:c.1110-3272G>A	NP_001193942.1:n.1110-3272G>A
NM_001308287.1:c.954-3272G>A	NP_001295216.1:n.954-3272G>A
NM_002828.3:c.1041-3272G>A	NP_002819.2:n.1041-3272G>A
NM_080422.2:c.1041-3272G>A	NP_536347.1:n.1041-3272G>A
NM_080423.2:c.1040+4213G>A	NP_536348.1:n.1040+4213G>A
XM_005258124.2:c.1110-3272G>A	XP_005258181.1:n.1110-3272G>A
XM_005258125.2:c.1110-3272G>A	XP_005258182.1:n.1110-3272G>A
XM_011525705.1:c.1023-3272G>A	XP_011524007.1:n.1023-3272G>A
XM_011525706.1:c.906-3272G>A	XP_011524008.1:n.906-3272G>A
XM_011525707.1:c.573-3272G>A	XP_011524009.1:n.573-3272G>A
XM_005258124.4:c.1110-3272G>A	XP_005258181.1:n.1110-3272G>A
XM_005258125.4:c.1110-3272G>A	XP_005258182.1:n.1110-3272G>A
XM_011525705.3:c.1023-3272G>A	XP_011524007.1:n.1023-3272G>A
XM_011525706.2:c.906-3272G>A	XP_011524008.1:n.906-3272G>A
XM_011525707.2:c.573-3272G>A	XP_011524009.1:n.573-3272G>A
XM_017025884.1:c.1041-3272G>A	XP_016881373.1:n.1041-3272G>A
XM_017025885.2:c.954-3272G>A	XP_016881374.1:n.954-3272G>A
XM_017025886.1:c.744-3272G>A	XP_016881375.1:n.744-3272G>A
XM_017025887.2:c.744-3272G>A	XP_016881376.1:n.744-3272G>A
XM_017025888.2:c.744-3272G>A	XP_016881377.1:n.744-3272G>A
XM_024451228.1:c.906-3272G>A	XP_024306996.1:n.906-3272G>A
XM_024451229.1:c.744-3272G>A	XP_024306997.1:n.744-3272G>A
XM_024451230.1:c.744-3272G>A	XP_024306998.1:n.744-3272G>A
NM_002828.4:c.1041-3272G>A MANE Select	NP_002819.2:n.1041-3272G>A
NM_001207013.2:c.1110-3272G>A	NP_001193942.1:n.1110-3272G>A
NM_080422.3:c.1041-3272G>A	NP_536347.1:n.1041-3272G>A
NM_080423.3:c.1040+4213G>A	NP_536348.1:n.1040+4213G>A