Canonical Allele Identifier: CA523583499

Gene: RAVER2

Linked Data

• dbSNP Id: rs1557612145
• gnomAD v2: 1-65298607-G-T
• gnomAD v3: 1-64832924-G-T
• gnomAD v4: 1-64832924-G-T
• MyVariant Identifiers: chr1:g.65298607G>T (hg19) ; chr1:g.64832924G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64832924G>T , CM000663.2:g.64832924G>T	GRCh38
NC_000001.10:g.65298607G>T , CM000663.1:g.65298607G>T	GRCh37
NC_000001.9:g.65071195G>T	NCBI36
NG_023402.1:g.138581C>A
NG_023402.2:g.239823C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000294428.8:c.*1939G>T MANE Select	ENSP00000294428.3:n.*1939G>T
ENST00000294428.7:c.*1939G>T	ENSP00000294428.3:n.*1939G>T
ENST00000371072.8:c.*1939G>T	ENSP00000360112.4:n.*1939G>T
NM_018211.3:c.*1939G>T	NP_060681.2:n.*1939G>T
XM_006710738.2:c.*1939G>T	XP_006710801.2:n.*1939G>T
NM_001366165.1:c.*1939G>T	NP_001353094.1:n.*1939G>T
XR_946693.3:n.4358G>T
NM_018211.4:c.*1939G>T	NP_060681.2:n.*1939G>T
NM_001366165.2:c.*1939G>T MANE Select	NP_001353094.1:n.*1939G>T