Canonical Allele Identifier: CA23896551
Gene: RAVER2 HGNC NCBI

Linked Data

dbSNP Id: rs541072329
gnomAD v3: 1-64833138-C-T
gnomAD v4: 1-64833138-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.64833138C>T , CM000663.2:g.64833138C>T GRCh38
NC_000001.10:g.65298821C>T , CM000663.1:g.65298821C>T GRCh37
NC_000001.9:g.65071409C>T NCBI36
NG_023402.1:g.138367G>A
NG_023402.2:g.239609G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000294428.8:c.*2153C>T MANE Select ENSP00000294428.3:n.*2153C>T
ENST00000294428.7:c.*2153C>T ENSP00000294428.3:n.*2153C>T
ENST00000371072.8:c.*2153C>T ENSP00000360112.4:n.*2153C>T
NM_018211.3:c.*2153C>T NP_060681.2:n.*2153C>T
XM_006710738.2:c.*2153C>T XP_006710801.2:n.*2153C>T
NM_001366165.1:c.*2153C>T NP_001353094.1:n.*2153C>T
XR_946693.3:n.4572C>T
NM_018211.4:c.*2153C>T NP_060681.2:n.*2153C>T
NM_001366165.2:c.*2153C>T MANE Select NP_001353094.1:n.*2153C>T