Canonical Allele Identifier: CA463781783

Gene: JAK2 MTATP6P11 INSL6

Linked Data

• dbSNP Id: rs1167525518
• gnomAD v2: 9-5099595-C-G
• gnomAD v3: 9-5099595-C-G
• gnomAD v4: 9-5099595-C-G
• MyVariant Identifiers: chr9:g.5099595C>G (hg19) ; chr9:g.5099595C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5099595C>G , CM000671.2:g.5099595C>G	GRCh38
NC_000009.11:g.5099595C>G , CM000671.1:g.5099595C>G	GRCh37
NC_000009.10:g.5089595C>G	NCBI36
NG_009904.1:g.119351C>G , LRG_612:g.119351C>G
NG_046969.1:g.91116G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381652.4:c.3059+8684C>G (JAK2) MANE Select	ENSP00000371067.4:n.3059+8684C>G
ENST00000381652.3:c.3059+8684C>G (JAK2)	ENSP00000371067.3:n.3059+8684C>G
ENST00000428071.1:n.36C>G (MTATP6P11)
NM_004972.3:c.3059+8684C>G , LRG_612t1:c.3059+8684C>G (JAK2)	NP_004963.1:n.3059+8684C>G
XM_011517701.1:c.376+64584G>C (INSL6)	XP_011516003.1:n.376+64584G>C
XM_011517702.1:c.376+64584G>C (INSL6)	XP_011516004.1:n.376+64584G>C
XR_929169.1:n.484+64584G>C (INSL6)
NM_001322194.1:c.3059+8684C>G (JAK2)	NP_001309123.1:n.3059+8684C>G
NM_001322195.1:c.3059+8684C>G (JAK2)	NP_001309124.1:n.3059+8684C>G
NM_001322196.1:c.3059+8684C>G (JAK2)	NP_001309125.1:n.3059+8684C>G
NM_001322198.1:c.1844+8684C>G (JAK2)	NP_001309127.1:n.1844+8684C>G
NM_001322199.1:c.1844+8684C>G (JAK2)	NP_001309128.1:n.1844+8684C>G
NM_001322204.1:c.2612+8684C>G (JAK2)	NP_001309133.1:n.2612+8684C>G
XM_011517702.3:c.376+64584G>C (INSL6)	XP_011516004.1:n.376+64584G>C
NM_004972.4:c.3059+8684C>G (JAK2) MANE Select	NP_004963.1:n.3059+8684C>G
NM_001322194.2:c.3059+8684C>G (JAK2)	NP_001309123.1:n.3059+8684C>G
NM_001322195.2:c.3059+8684C>G (JAK2)	NP_001309124.1:n.3059+8684C>G
NM_001322196.2:c.3059+8684C>G (JAK2)	NP_001309125.1:n.3059+8684C>G
NM_001322198.2:c.1844+8684C>G (JAK2)	NP_001309127.1:n.1844+8684C>G
NM_001322199.2:c.1844+8684C>G (JAK2)	NP_001309128.1:n.1844+8684C>G
NM_001322204.2:c.2612+8684C>G (JAK2)	NP_001309133.1:n.2612+8684C>G
NR_169763.1:n.3543+8684C>G (JAK2)
NR_169764.1:n.3460+8684C>G (JAK2)