Canonical Allele Identifier: CA1172053920

Gene: RAVER2

Linked Data

• dbSNP Id: rs1654222583
• gnomAD v4: 1-64833107-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64833108del , CM000663.2:g.64833108del	GRCh38
NC_000001.10:g.65298791del , CM000663.1:g.65298791del	GRCh37
NC_000001.9:g.65071379del	NCBI36
NG_023402.1:g.138397del
NG_023402.2:g.239639del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294428.8:c.*2123del MANE Select	ENSP00000294428.3:n.*2123del
ENST00000294428.7:c.*2123del	ENSP00000294428.3:n.*2123del
ENST00000371072.8:c.*2123del	ENSP00000360112.4:n.*2123del
NM_018211.3:c.*2123del	NP_060681.2:n.*2123del
XM_006710738.2:c.*2123del	XP_006710801.2:n.*2123del
NM_001366165.1:c.*2123del	NP_001353094.1:n.*2123del
XR_946693.3:n.4542del
NM_018211.4:c.*2123del	NP_060681.2:n.*2123del
NM_001366165.2:c.*2123del MANE Select	NP_001353094.1:n.*2123del