Canonical Allele Identifier: CA2695983380

Linked Data

dbSNP Id: rs2100916131

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.64833227T>A , CM000663.2:g.64833227T>A GRCh38
NC_000001.10:g.65298910T>A , CM000663.1:g.65298910T>A GRCh37
NC_000001.9:g.65071498T>A NCBI36
NG_023402.1:g.138278A>T
NG_023402.2:g.239520A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000294428.8:c.*2242T>A (RAVER2) MANE Select ENSP00000294428.3:n.*2242T>A
ENST00000465376.7:n.3140A>T (JAK1)
ENST00000294428.7:c.*2242T>A (RAVER2) ENSP00000294428.3:n.*2242T>A
ENST00000371072.8:c.*2242T>A (RAVER2) ENSP00000360112.4:n.*2242T>A
NM_002227.2:c.*1335A>T (JAK1) NP_002218.2:n.*1335A>T
NM_018211.3:c.*2242T>A (RAVER2) NP_060681.2:n.*2242T>A
XM_006710738.2:c.*2242T>A (RAVER2) XP_006710801.2:n.*2242T>A
NM_001320923.1:c.*1335A>T (JAK1) NP_001307852.1:n.*1335A>T
NM_001321852.1:c.*1335A>T (JAK1) NP_001308781.1:n.*1335A>T
NM_001321853.1:c.*1335A>T (JAK1) NP_001308782.1:n.*1335A>T
NM_001321854.1:c.*1335A>T (JAK1) NP_001308783.1:n.*1335A>T
NM_001321855.1:c.*1335A>T (JAK1) NP_001308784.1:n.*1335A>T
NM_001321856.1:c.*1335A>T (JAK1) NP_001308785.1:n.*1335A>T
NM_001321857.1:c.*1335A>T (JAK1) NP_001308786.1:n.*1335A>T
NM_001366165.1:c.*2242T>A (RAVER2) NP_001353094.1:n.*2242T>A
NM_002227.3:c.*1335A>T (JAK1) NP_002218.2:n.*1335A>T
XR_946693.3:n.4661T>A (RAVER2)
NM_018211.4:c.*2242T>A (RAVER2) NP_060681.2:n.*2242T>A
NM_001366165.2:c.*2242T>A (RAVER2) MANE Select NP_001353094.1:n.*2242T>A