Canonical Allele Identifier: CA403374087

Gene: RAX2

Linked Data

• gnomAD v4: 19-3770674-G-T
• MyVariant Identifiers: chr19:g.3770672G>T (hg19) ; chr19:g.3770674G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3770674G>T , CM000681.2:g.3770674G>T	GRCh38
NC_000019.9:g.3770672G>T , CM000681.1:g.3770672G>T	GRCh37
NC_000019.8:g.3721672G>T	NCBI36
NG_011565.1:g.6548C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000555633.3:c.502C>A MANE Select	ENSP00000450456.3:p.Leu168Met
ENST00000555633.2:c.502C>A	ENSP00000450456.2:p.Leu168Met
ENST00000555978.5:c.502C>A	ENSP00000450687.2:p.Leu168Met
NM_032753.3:c.502C>A	NP_116142.1:p.Leu168Met
XM_005259662.1:c.640C>A	XP_005259719.1:p.Leu214Met
NM_001319074.1:c.640C>A	NP_001306003.1:p.Leu214Met
NM_001319074.4:c.502C>A MANE Select	NP_001306003.2:p.Leu168Met
NM_032753.4:c.502C>A	NP_116142.1:p.Leu168Met