Canonical Allele Identifier: CA1829665295

Gene: JAK2 INSL6

Linked Data

• dbSNP Id: rs1586755515
• gnomAD v4: 9-5081886-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5081886T>C , CM000671.2:g.5081886T>C	GRCh38
NC_000009.11:g.5081886T>C , CM000671.1:g.5081886T>C	GRCh37
NC_000009.10:g.5071886T>C	NCBI36
NG_009904.1:g.101642T>C , LRG_612:g.101642T>C
NG_046969.1:g.108825A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381652.4:c.2571+25T>C (JAK2) MANE Select	ENSP00000371067.4:n.2571+25T>C
ENST00000381652.3:c.2571+25T>C (JAK2)	ENSP00000371067.3:n.2571+25T>C
NM_004972.3:c.2571+25T>C , LRG_612t1:c.2571+25T>C (JAK2)	NP_004963.1:n.2571+25T>C
XM_011517701.1:c.377-66542A>G (INSL6)	XP_011516003.1:n.377-66542A>G
XM_011517702.1:c.376+82293A>G (INSL6)	XP_011516004.1:n.376+82293A>G
XR_929169.1:n.485-66542A>G (INSL6)
NM_001322194.1:c.2571+25T>C (JAK2)	NP_001309123.1:n.2571+25T>C
NM_001322195.1:c.2571+25T>C (JAK2)	NP_001309124.1:n.2571+25T>C
NM_001322196.1:c.2571+25T>C (JAK2)	NP_001309125.1:n.2571+25T>C
NM_001322198.1:c.1356+25T>C (JAK2)	NP_001309127.1:n.1356+25T>C
NM_001322199.1:c.1356+25T>C (JAK2)	NP_001309128.1:n.1356+25T>C
NM_001322204.1:c.2124+25T>C (JAK2)	NP_001309133.1:n.2124+25T>C
XM_011517702.3:c.376+82293A>G (INSL6)	XP_011516004.1:n.376+82293A>G
NM_004972.4:c.2571+25T>C (JAK2) MANE Select	NP_004963.1:n.2571+25T>C
NM_001322194.2:c.2571+25T>C (JAK2)	NP_001309123.1:n.2571+25T>C
NM_001322195.2:c.2571+25T>C (JAK2)	NP_001309124.1:n.2571+25T>C
NM_001322196.2:c.2571+25T>C (JAK2)	NP_001309125.1:n.2571+25T>C
NM_001322198.2:c.1356+25T>C (JAK2)	NP_001309127.1:n.1356+25T>C
NM_001322199.2:c.1356+25T>C (JAK2)	NP_001309128.1:n.1356+25T>C
NM_001322204.2:c.2124+25T>C (JAK2)	NP_001309133.1:n.2124+25T>C
NR_169763.1:n.3055+25T>C (JAK2)
NR_169764.1:n.2972+25T>C (JAK2)