Canonical Allele Identifier: CA346904136

Gene: RPS27A

Linked Data

• gnomAD v4: 2-55234200-A-G
• MyVariant Identifiers: chr2:g.55461336A>G (hg19) ; chr2:g.55234200A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55234200A>G , CM000664.2:g.55234200A>G	GRCh38
NC_000002.11:g.55461336A>G , CM000664.1:g.55461336A>G	GRCh37
NC_000002.10:g.55314840A>G	NCBI36
NG_017017.1:g.7272A>G
NG_033063.1:g.3364T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272317.11:c.185A>G MANE Select	ENSP00000272317.6:p.Gln62Arg
ENST00000272317.10:c.185A>G	ENSP00000272317.6:p.Gln62Arg
ENST00000402285.7:c.185A>G	ENSP00000383981.3:p.Gln62Arg
ENST00000404735.1:c.185A>G	ENSP00000385659.1:p.Gln62Arg
ENST00000449323.5:c.185A>G	ENSP00000408482.1:p.Gln62Arg
ENST00000468810.1:n.143A>G
ENST00000478196.6:n.222A>G
ENST00000495843.1:n.215A>G
NM_001135592.2:c.185A>G	NP_001129064.1:p.Gln62Arg
NM_001177413.1:c.185A>G	NP_001170884.1:p.Gln62Arg
NM_002954.5:c.185A>G	NP_002945.1:p.Gln62Arg
NM_002954.6:c.185A>G MANE Select	NP_002945.1:p.Gln62Arg