Canonical Allele Identifier: CA364337750

Gene: AARS2 TMEM151B POLR1C

Linked Data

• ClinVar Variation Id: 623387
• ClinVar RCV Id: RCV000761537
• dbSNP Id: rs1561938413
• gnomAD v4: 6-44303404-T-G
• MyVariant Identifiers: chr6:g.44271141T>G (hg19) ; chr6:g.44303404T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303404T>G , CM000668.2:g.44303404T>G	GRCh38
NC_000006.11:g.44271141T>G , CM000668.1:g.44271141T>G	GRCh37
NC_000006.10:g.44379119T>G	NCBI36
NG_031952.1:g.14923A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2027A>C (AARS2) MANE Select	ENSP00000244571.4:p.Gln676Pro
ENST00000244571.4:c.2027A>C (AARS2)	ENSP00000244571.4:p.Gln676Pro
ENST00000438774.2:c.577-3539T>G (TMEM151B)	ENSP00000409337.2:n.577-3539T>G
ENST00000505802.1:c.314-3539T>G
NM_020745.3:c.2027A>C (AARS2)	NP_065796.1:p.Gln676Pro
XM_005249245.2:c.1736A>C (AARS2)	XP_005249302.1:p.Gln579Pro
XM_011514764.1:c.2027A>C (AARS2)	XP_011513066.1:p.Gln676Pro
XR_241907.2:n.2062A>C (AARS2)
XM_005249245.3:c.1736A>C (AARS2)	XP_005249302.1:p.Gln579Pro
XM_011514764.2:c.2027A>C (AARS2)	XP_011513066.1:p.Gln676Pro
XM_017011112.1:c.737A>C (AARS2)	XP_016866601.1:p.Gln246Pro
NM_020745.4:c.2027A>C (AARS2) MANE Select	NP_065796.2:p.Gln676Pro
NM_001318876.2:c.946-138486T>G (POLR1C)	NP_001305805.1:n.946-138486T>G