Canonical Allele Identifier: CA403374101

Gene: RAX2

Linked Data

• gnomAD v4: 19-3770679-A-G
• MyVariant Identifiers: chr19:g.3770677A>G (hg19) ; chr19:g.3770679A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3770679A>G , CM000681.2:g.3770679A>G	GRCh38
NC_000019.9:g.3770677A>G , CM000681.1:g.3770677A>G	GRCh37
NC_000019.8:g.3721677A>G	NCBI36
NG_011565.1:g.6543T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000555633.3:c.497T>C MANE Select	ENSP00000450456.3:p.Leu166Pro
ENST00000555633.2:c.497T>C	ENSP00000450456.2:p.Leu166Pro
ENST00000555978.5:c.497T>C	ENSP00000450687.2:p.Leu166Pro
NM_032753.3:c.497T>C	NP_116142.1:p.Leu166Pro
XM_005259662.1:c.635T>C	XP_005259719.1:p.Leu212Pro
NM_001319074.1:c.635T>C	NP_001306003.1:p.Leu212Pro
NM_001319074.4:c.497T>C MANE Select	NP_001306003.2:p.Leu166Pro
NM_032753.4:c.497T>C	NP_116142.1:p.Leu166Pro