Canonical Allele Identifier: CA364342206

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs1404592097
• gnomAD v3: 6-44313236-G-A
• gnomAD v4: 6-44313236-G-A
• MyVariant Identifiers: chr6:g.44280973G>A (hg19) ; chr6:g.44313236G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313236G>A , CM000668.2:g.44313236G>A	GRCh38
NC_000006.11:g.44280973G>A , CM000668.1:g.44280973G>A	GRCh37
NC_000006.10:g.44388951G>A	NCBI36
NG_031952.1:g.5091C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.88C>T (AARS2) MANE Select	ENSP00000244571.4:p.Leu30Phe
ENST00000244571.4:c.88C>T (AARS2)	ENSP00000244571.4:p.Leu30Phe
ENST00000505802.1:c.855+5594G>A
NM_020745.3:c.88C>T (AARS2)	NP_065796.1:p.Leu30Phe
XM_005249245.2:c.88C>T (AARS2)	XP_005249302.1:p.Leu30Phe
XM_011514764.1:c.88C>T (AARS2)	XP_011513066.1:p.Leu30Phe
XR_241907.2:n.123C>T (AARS2)
XM_005249245.3:c.88C>T (AARS2)	XP_005249302.1:p.Leu30Phe
XM_011514764.2:c.88C>T (AARS2)	XP_011513066.1:p.Leu30Phe
NM_020745.4:c.88C>T (AARS2) MANE Select	NP_065796.2:p.Leu30Phe
NM_001318876.2:c.946-128654G>A (POLR1C)	NP_001305805.1:n.946-128654G>A