Canonical Allele Identifier: CA188453792

Gene: JAK2 MTCO3P11 INSL6

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5100291C>G , CM000671.2:g.5100291C>G	GRCh38
NC_000009.11:g.5100291C>G , CM000671.1:g.5100291C>G	GRCh37
NC_000009.10:g.5090291C>G	NCBI36
NG_009904.1:g.120047C>G , LRG_612:g.120047C>G
NG_046969.1:g.90420G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381652.4:c.3059+9380C>G (JAK2) MANE Select	ENSP00000371067.4:n.3059+9380C>G
ENST00000381652.3:c.3059+9380C>G (JAK2)	ENSP00000371067.3:n.3059+9380C>G
ENST00000455103.1:n.56C>G (MTCO3P11)
NM_004972.3:c.3059+9380C>G , LRG_612t1:c.3059+9380C>G (JAK2)	NP_004963.1:n.3059+9380C>G
XM_011517701.1:c.376+63888G>C (INSL6)	XP_011516003.1:n.376+63888G>C
XM_011517702.1:c.376+63888G>C (INSL6)	XP_011516004.1:n.376+63888G>C
XR_929169.1:n.484+63888G>C (INSL6)
NM_001322194.1:c.3059+9380C>G (JAK2)	NP_001309123.1:n.3059+9380C>G
NM_001322195.1:c.3059+9380C>G (JAK2)	NP_001309124.1:n.3059+9380C>G
NM_001322196.1:c.3059+9380C>G (JAK2)	NP_001309125.1:n.3059+9380C>G
NM_001322198.1:c.1844+9380C>G (JAK2)	NP_001309127.1:n.1844+9380C>G
NM_001322199.1:c.1844+9380C>G (JAK2)	NP_001309128.1:n.1844+9380C>G
NM_001322204.1:c.2612+9380C>G (JAK2)	NP_001309133.1:n.2612+9380C>G
XM_011517702.3:c.376+63888G>C (INSL6)	XP_011516004.1:n.376+63888G>C
NM_004972.4:c.3059+9380C>G (JAK2) MANE Select	NP_004963.1:n.3059+9380C>G
NM_001322194.2:c.3059+9380C>G (JAK2)	NP_001309123.1:n.3059+9380C>G
NM_001322195.2:c.3059+9380C>G (JAK2)	NP_001309124.1:n.3059+9380C>G
NM_001322196.2:c.3059+9380C>G (JAK2)	NP_001309125.1:n.3059+9380C>G
NM_001322198.2:c.1844+9380C>G (JAK2)	NP_001309127.1:n.1844+9380C>G
NM_001322199.2:c.1844+9380C>G (JAK2)	NP_001309128.1:n.1844+9380C>G
NM_001322204.2:c.2612+9380C>G (JAK2)	NP_001309133.1:n.2612+9380C>G
NR_169763.1:n.3543+9380C>G (JAK2)
NR_169764.1:n.3460+9380C>G (JAK2)