Canonical Allele Identifier: CA2743920362

Gene: RAVER2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64833148C>T , CM000663.2:g.64833148C>T	GRCh38
NC_000001.10:g.65298831C>T , CM000663.1:g.65298831C>T	GRCh37
NC_000001.9:g.65071419C>T	NCBI36
NG_023402.1:g.138357G>A
NG_023402.2:g.239599G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000294428.8:c.*2163C>T MANE Select	ENSP00000294428.3:n.*2163C>T
ENST00000294428.7:c.*2163C>T	ENSP00000294428.3:n.*2163C>T
ENST00000371072.8:c.*2163C>T	ENSP00000360112.4:n.*2163C>T
NM_018211.3:c.*2163C>T	NP_060681.2:n.*2163C>T
XM_006710738.2:c.*2163C>T	XP_006710801.2:n.*2163C>T
NM_001366165.1:c.*2163C>T	NP_001353094.1:n.*2163C>T
XR_946693.3:n.4582C>T
NM_018211.4:c.*2163C>T	NP_060681.2:n.*2163C>T
NM_001366165.2:c.*2163C>T MANE Select	NP_001353094.1:n.*2163C>T