Canonical Allele Identifier: CA2646050473

Gene: RAVER2 JAK1

Linked Data

• gnomAD v4: 1-64833228-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64833228G>T , CM000663.2:g.64833228G>T	GRCh38
NC_000001.10:g.65298911G>T , CM000663.1:g.65298911G>T	GRCh37
NC_000001.9:g.65071499G>T	NCBI36
NG_023402.1:g.138277C>A
NG_023402.2:g.239519C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294428.8:c.*2243G>T (RAVER2) MANE Select	ENSP00000294428.3:n.*2243G>T
ENST00000465376.7:n.3139C>A (JAK1)
ENST00000294428.7:c.*2243G>T (RAVER2)	ENSP00000294428.3:n.*2243G>T
ENST00000371072.8:c.*2243G>T (RAVER2)	ENSP00000360112.4:n.*2243G>T
NM_002227.2:c.*1334C>A (JAK1)	NP_002218.2:n.*1334C>A
NM_018211.3:c.*2243G>T (RAVER2)	NP_060681.2:n.*2243G>T
XM_006710738.2:c.*2243G>T (RAVER2)	XP_006710801.2:n.*2243G>T
NM_001320923.1:c.*1334C>A (JAK1)	NP_001307852.1:n.*1334C>A
NM_001321852.1:c.*1334C>A (JAK1)	NP_001308781.1:n.*1334C>A
NM_001321853.1:c.*1334C>A (JAK1)	NP_001308782.1:n.*1334C>A
NM_001321854.1:c.*1334C>A (JAK1)	NP_001308783.1:n.*1334C>A
NM_001321855.1:c.*1334C>A (JAK1)	NP_001308784.1:n.*1334C>A
NM_001321856.1:c.*1334C>A (JAK1)	NP_001308785.1:n.*1334C>A
NM_001321857.1:c.*1334C>A (JAK1)	NP_001308786.1:n.*1334C>A
NM_001366165.1:c.*2243G>T (RAVER2)	NP_001353094.1:n.*2243G>T
NM_002227.3:c.*1334C>A (JAK1)	NP_002218.2:n.*1334C>A
XR_946693.3:n.4662G>T (RAVER2)
NM_018211.4:c.*2243G>T (RAVER2)	NP_060681.2:n.*2243G>T
NM_001366165.2:c.*2243G>T (RAVER2) MANE Select	NP_001353094.1:n.*2243G>T