Canonical Allele Identifier: CA13023935

Gene: JAK2 INSL6

Linked Data

• dbSNP Id: rs10815144
• gnomAD v2: 9-5010192-G-A
• gnomAD v3: 9-5010192-G-A
• gnomAD v4: 9-5010192-G-A
• MyVariant Identifiers: chr9:g.5010192G>A (hg19) ; chr9:g.5010192G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5010192G>A , CM000671.2:g.5010192G>A	GRCh38
NC_000009.11:g.5010192G>A , CM000671.1:g.5010192G>A	GRCh37
NC_000009.10:g.5000192G>A	NCBI36
NG_009904.1:g.29948G>A , LRG_612:g.29948G>A
NG_046969.1:g.180519C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381652.4:c.-25-11771G>A (JAK2) MANE Select	ENSP00000371067.4:n.-25-11771G>A
ENST00000636127.1:c.-25-11771G>A (JAK2)	ENSP00000489812.1:n.-25-11771G>A
ENST00000381652.3:c.-25-11771G>A (JAK2)	ENSP00000371067.3:n.-25-11771G>A
ENST00000476574.5:n.225-11771G>A (JAK2)
NM_004972.3:c.-25-11771G>A , LRG_612t1:c.-25-11771G>A (JAK2)	NP_004963.1:n.-25-11771G>A
XM_011517702.1:c.377-17759C>T (INSL6)	XP_011516004.1:n.377-17759C>T
XR_929169.1:n.659+4978C>T (INSL6)
NM_001322194.1:c.-25-11771G>A (JAK2)	NP_001309123.1:n.-25-11771G>A
NM_001322195.1:c.-25-11771G>A (JAK2)	NP_001309124.1:n.-25-11771G>A
NM_001322196.1:c.-25-11771G>A (JAK2)	NP_001309125.1:n.-25-11771G>A
NM_001322198.1:c.-1145-11771G>A (JAK2)	NP_001309127.1:n.-1145-11771G>A
NM_001322199.1:c.-1145-11771G>A (JAK2)	NP_001309128.1:n.-1145-11771G>A
XM_011517702.3:c.377-17759C>T (INSL6)	XP_011516004.1:n.377-17759C>T
NM_004972.4:c.-25-11771G>A (JAK2) MANE Select	NP_004963.1:n.-25-11771G>A
NM_001322194.2:c.-25-11771G>A (JAK2)	NP_001309123.1:n.-25-11771G>A
NM_001322195.2:c.-25-11771G>A (JAK2)	NP_001309124.1:n.-25-11771G>A
NM_001322196.2:c.-25-11771G>A (JAK2)	NP_001309125.1:n.-25-11771G>A
NM_001322198.2:c.-1145-11771G>A (JAK2)	NP_001309127.1:n.-1145-11771G>A
NM_001322199.2:c.-1145-11771G>A (JAK2)	NP_001309128.1:n.-1145-11771G>A
NR_169763.1:n.460-11771G>A (JAK2)
NR_169764.1:n.377-11771G>A (JAK2)