Canonical Allele Identifier: CA372817184

Gene: JAK2 INSL6

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5044488G>A , CM000671.2:g.5044488G>A	GRCh38
NC_000009.11:g.5044488G>A , CM000671.1:g.5044488G>A	GRCh37
NC_000009.10:g.5034488G>A	NCBI36
NG_009904.1:g.64244G>A , LRG_612:g.64244G>A
NG_046969.1:g.146223C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004972.4:c.436G>A (JAK2) MANE Select	NP_004963.1:p.Asp146Asn
ENST00000381652.4:c.436G>A (JAK2) MANE Select	ENSP00000371067.4:p.Asp146Asn
NM_001322194.1:c.436G>A (JAK2)	NP_001309123.1:p.Asp146Asn
NM_001322194.2:c.436G>A (JAK2)	NP_001309123.1:p.Asp146Asn
NM_001322195.1:c.436G>A (JAK2)	NP_001309124.1:p.Asp146Asn
NM_001322195.2:c.436G>A (JAK2)	NP_001309124.1:p.Asp146Asn
NM_001322196.1:c.436G>A (JAK2)	NP_001309125.1:p.Asp146Asn
NM_001322196.2:c.436G>A (JAK2)	NP_001309125.1:p.Asp146Asn
NM_001322198.1:c.-685G>A (JAK2)	NP_001309127.1:n.-685G>A
NM_001322198.2:c.-685G>A (JAK2)	NP_001309127.1:n.-685G>A
NM_001322199.1:c.-685G>A (JAK2)	NP_001309128.1:n.-685G>A
NM_001322199.2:c.-685G>A (JAK2)	NP_001309128.1:n.-685G>A
NM_001322204.1:c.-12G>A (JAK2)	NP_001309133.1:n.-12G>A
NM_001322204.2:c.-12G>A (JAK2)	NP_001309133.1:n.-12G>A
NM_004972.3:c.436G>A , LRG_612t1:c.436G>A (JAK2)	NP_004963.1:p.Asp146Asn
NR_169763.1:n.920G>A (JAK2)
NR_169764.1:n.837G>A (JAK2)
ENST00000381652.3:c.436G>A (JAK2)	ENSP00000371067.3:p.Asp146Asn
ENST00000636127.1:c.436G>A (JAK2)	ENSP00000489812.1:p.Asp146Asn
XM_011517701.1:c.377-29144C>T (INSL6)	XP_011516003.1:n.377-29144C>T
XM_011517702.1:c.377-52055C>T (INSL6)	XP_011516004.1:n.377-52055C>T
XM_011517702.3:c.377-52055C>T (INSL6)	XP_011516004.1:n.377-52055C>T
XR_929169.1:n.485-29144C>T (INSL6)