Canonical Allele Identifier: CA403374066

Gene: RAX2

Linked Data

• gnomAD v4: 19-3770668-C-A
• MyVariant Identifiers: chr19:g.3770666C>A (hg19) ; chr19:g.3770668C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3770668C>A , CM000681.2:g.3770668C>A	GRCh38
NC_000019.9:g.3770666C>A , CM000681.1:g.3770666C>A	GRCh37
NC_000019.8:g.3721666C>A	NCBI36
NG_011565.1:g.6554G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000555633.3:c.508G>T MANE Select	ENSP00000450456.3:p.Ala170Ser
ENST00000555633.2:c.508G>T	ENSP00000450456.2:p.Ala170Ser
ENST00000555978.5:c.508G>T	ENSP00000450687.2:p.Ala170Ser
NM_032753.3:c.508G>T	NP_116142.1:p.Ala170Ser
XM_005259662.1:c.646G>T	XP_005259719.1:p.Ala216Ser
NM_001319074.1:c.646G>T	NP_001306003.1:p.Ala216Ser
NM_001319074.4:c.508G>T MANE Select	NP_001306003.2:p.Ala170Ser
NM_032753.4:c.508G>T	NP_116142.1:p.Ala170Ser