Canonical Allele Identifier: CA403374058
Gene: RAX2 HGNC NCBI

Linked Data

dbSNP Id: rs1187818180
gnomAD v2: 19-3770665-G-A
gnomAD v3: 19-3770667-G-A
gnomAD v4: 19-3770667-G-A
MyVariant Identifiers: chr19:g.3770665G>A (hg19) chr19:g.3770667G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3770667G>A , CM000681.2:g.3770667G>A GRCh38
NC_000019.9:g.3770665G>A , CM000681.1:g.3770665G>A GRCh37
NC_000019.8:g.3721665G>A NCBI36
NG_011565.1:g.6555C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000555633.3:c.509C>T MANE Select ENSP00000450456.3:p.Ala170Val
ENST00000555633.2:c.509C>T ENSP00000450456.2:p.Ala170Val
ENST00000555978.5:c.509C>T ENSP00000450687.2:p.Ala170Val
NM_032753.3:c.509C>T NP_116142.1:p.Ala170Val
XM_005259662.1:c.647C>T XP_005259719.1:p.Ala216Val
NM_001319074.1:c.647C>T NP_001306003.1:p.Ala216Val
NM_001319074.4:c.509C>T MANE Select NP_001306003.2:p.Ala170Val
NM_032753.4:c.509C>T NP_116142.1:p.Ala170Val
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