Canonical Allele Identifier: CA403374082

Gene: RAX2

Linked Data

• gnomAD v4: 19-3770673-A-C
• MyVariant Identifiers: chr19:g.3770671A>C (hg19) ; chr19:g.3770673A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3770673A>C , CM000681.2:g.3770673A>C	GRCh38
NC_000019.9:g.3770671A>C , CM000681.1:g.3770671A>C	GRCh37
NC_000019.8:g.3721671A>C	NCBI36
NG_011565.1:g.6549T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000555633.3:c.503T>G MANE Select	ENSP00000450456.3:p.Leu168Arg
ENST00000555633.2:c.503T>G	ENSP00000450456.2:p.Leu168Arg
ENST00000555978.5:c.503T>G	ENSP00000450687.2:p.Leu168Arg
NM_032753.3:c.503T>G	NP_116142.1:p.Leu168Arg
XM_005259662.1:c.641T>G	XP_005259719.1:p.Leu214Arg
NM_001319074.1:c.641T>G	NP_001306003.1:p.Leu214Arg
NM_001319074.4:c.503T>G MANE Select	NP_001306003.2:p.Leu168Arg
NM_032753.4:c.503T>G	NP_116142.1:p.Leu168Arg