Canonical Allele Identifier: CA463781935

Gene: JAK2 MTATP6P11 INSL6

Linked Data

• gnomAD v4: 9-5099649-C-T
• MyVariant Identifiers: chr9:g.5099649C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5099649C>T , CM000671.2:g.5099649C>T	GRCh38
NC_000009.11:g.5099649C>T , CM000671.1:g.5099649C>T	GRCh37
NC_000009.10:g.5089649C>T	NCBI36
NG_009904.1:g.119405C>T , LRG_612:g.119405C>T
NG_046969.1:g.91062G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381652.4:c.3059+8738C>T (JAK2) MANE Select	ENSP00000371067.4:n.3059+8738C>T
ENST00000381652.3:c.3059+8738C>T (JAK2)	ENSP00000371067.3:n.3059+8738C>T
ENST00000428071.1:n.90C>T (MTATP6P11)
NM_004972.3:c.3059+8738C>T , LRG_612t1:c.3059+8738C>T (JAK2)	NP_004963.1:n.3059+8738C>T
XM_011517701.1:c.376+64530G>A (INSL6)	XP_011516003.1:n.376+64530G>A
XM_011517702.1:c.376+64530G>A (INSL6)	XP_011516004.1:n.376+64530G>A
XR_929169.1:n.484+64530G>A (INSL6)
NM_001322194.1:c.3059+8738C>T (JAK2)	NP_001309123.1:n.3059+8738C>T
NM_001322195.1:c.3059+8738C>T (JAK2)	NP_001309124.1:n.3059+8738C>T
NM_001322196.1:c.3059+8738C>T (JAK2)	NP_001309125.1:n.3059+8738C>T
NM_001322198.1:c.1844+8738C>T (JAK2)	NP_001309127.1:n.1844+8738C>T
NM_001322199.1:c.1844+8738C>T (JAK2)	NP_001309128.1:n.1844+8738C>T
NM_001322204.1:c.2612+8738C>T (JAK2)	NP_001309133.1:n.2612+8738C>T
XM_011517702.3:c.376+64530G>A (INSL6)	XP_011516004.1:n.376+64530G>A
NM_004972.4:c.3059+8738C>T (JAK2) MANE Select	NP_004963.1:n.3059+8738C>T
NM_001322194.2:c.3059+8738C>T (JAK2)	NP_001309123.1:n.3059+8738C>T
NM_001322195.2:c.3059+8738C>T (JAK2)	NP_001309124.1:n.3059+8738C>T
NM_001322196.2:c.3059+8738C>T (JAK2)	NP_001309125.1:n.3059+8738C>T
NM_001322198.2:c.1844+8738C>T (JAK2)	NP_001309127.1:n.1844+8738C>T
NM_001322199.2:c.1844+8738C>T (JAK2)	NP_001309128.1:n.1844+8738C>T
NM_001322204.2:c.2612+8738C>T (JAK2)	NP_001309133.1:n.2612+8738C>T
NR_169763.1:n.3543+8738C>T (JAK2)
NR_169764.1:n.3460+8738C>T (JAK2)