Canonical Allele Identifier: CA403375032

Gene: RAX2

Linked Data

• ClinVar Variation Id: 2050516
• ClinVar RCV Id: RCV002921948
• dbSNP Id: rs121908280
• gnomAD v2: 19-3770914-C-G
• gnomAD v3: 19-3770916-C-G
• gnomAD v4: 19-3770916-C-G
• MyVariant Identifiers: chr19:g.3770914C>G (hg19) ; chr19:g.3770916C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3770916C>G , CM000681.2:g.3770916C>G	GRCh38
NC_000019.9:g.3770914C>G , CM000681.1:g.3770914C>G	GRCh37
NC_000019.8:g.3721914C>G	NCBI36
NG_011565.1:g.6306G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000555633.3:c.260G>C MANE Select	ENSP00000450456.3:p.Arg87Pro
ENST00000555633.2:c.260G>C	ENSP00000450456.2:p.Arg87Pro
ENST00000555978.5:c.260G>C	ENSP00000450687.2:p.Arg87Pro
NM_032753.3:c.260G>C	NP_116142.1:p.Arg87Pro
XM_005259662.1:c.398G>C	XP_005259719.1:p.Arg133Pro
NM_001319074.1:c.398G>C	NP_001306003.1:p.Arg133Pro
NM_001319074.4:c.260G>C MANE Select	NP_001306003.2:p.Arg87Pro
NM_032753.4:c.260G>C	NP_116142.1:p.Arg87Pro