Allele Registry

Canonical Allele Identifier: CA13023992

Gene: JAK2 HGNC NCBI
TCF3P1 HGNC NCBI
INSL6 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr9:g.5112288C>T

GRCh37 chr9:g.5112288C>T

Linked Data - Sequence & Population

gnomAD v2:

9:5112288 C / T

gnomAD v3:

9:5112288 C / T

gnomAD v4:

chr9-5112288-C-T

Joint Max Group AF 0.50338345 (SAS)

Genomes Max Group AF 0.51904098 (SAS)

Exomes Max Group AF 0.49576797 (SAS)

Linked Data - NCBI & NCI

dbSNP:

3780378

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5112288C>T , CM000671.2:g.5112288C>T	GRCh38
NC_000009.11:g.5112288C>T , CM000671.1:g.5112288C>T	GRCh37
NC_000009.10:g.5102288C>T	NCBI36
NG_009904.1:g.132044C>T , LRG_612:g.132044C>T
NG_046969.1:g.78423G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381652.4:c.3060-10716C>T (JAK2) MANE Select	ENSP00000371067.4:n.3060-10716C>T
ENST00000381652.3:c.3060-10716C>T (JAK2)	ENSP00000371067.3:n.3060-10716C>T
ENST00000423021.2:n.1376C>T (TCF3P1)
NM_004972.3:c.3060-10716C>T , LRG_612t1:c.3060-10716C>T (JAK2)	NP_004963.1:n.3060-10716C>T
XM_011517701.1:c.376+51891G>A (INSL6)	XP_011516003.1:n.376+51891G>A
XM_011517702.1:c.376+51891G>A (INSL6)	XP_011516004.1:n.376+51891G>A
XR_929169.1:n.484+51891G>A (INSL6)
NM_001322194.1:c.3060-10716C>T (JAK2)	NP_001309123.1:n.3060-10716C>T
NM_001322195.1:c.3060-10716C>T (JAK2)	NP_001309124.1:n.3060-10716C>T
NM_001322196.1:c.3060-10716C>T (JAK2)	NP_001309125.1:n.3060-10716C>T
NM_001322198.1:c.1845-10716C>T (JAK2)	NP_001309127.1:n.1845-10716C>T
NM_001322199.1:c.1845-10716C>T (JAK2)	NP_001309128.1:n.1845-10716C>T
NM_001322204.1:c.2613-10716C>T (JAK2)	NP_001309133.1:n.2613-10716C>T
XM_011517702.3:c.376+51891G>A (INSL6)	XP_011516004.1:n.376+51891G>A
NM_004972.4:c.3060-10716C>T (JAK2) MANE Select	NP_004963.1:n.3060-10716C>T
NM_001322194.2:c.3060-10716C>T (JAK2)	NP_001309123.1:n.3060-10716C>T
NM_001322195.2:c.3060-10716C>T (JAK2)	NP_001309124.1:n.3060-10716C>T
NM_001322196.2:c.3060-10716C>T (JAK2)	NP_001309125.1:n.3060-10716C>T
NM_001322198.2:c.1845-10716C>T (JAK2)	NP_001309127.1:n.1845-10716C>T
NM_001322199.2:c.1845-10716C>T (JAK2)	NP_001309128.1:n.1845-10716C>T
NM_001322204.2:c.2613-10716C>T (JAK2)	NP_001309133.1:n.2613-10716C>T
NR_169763.1:n.3544-10716C>T (JAK2)
NR_169764.1:n.3461-10716C>T (JAK2)

Search 100 bp 5'

Search 100 bp 3'