Canonical Allele Identifier: CA364342134

Gene: AARS2 POLR1C

Linked Data

• gnomAD v4: 6-44313200-C-T
• MyVariant Identifiers: chr6:g.44280937C>T (hg19) ; chr6:g.44313200C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313200C>T , CM000668.2:g.44313200C>T	GRCh38
NC_000006.11:g.44280937C>T , CM000668.1:g.44280937C>T	GRCh37
NC_000006.10:g.44388915C>T	NCBI36
NG_031952.1:g.5127G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.124G>A (AARS2) MANE Select	ENSP00000244571.4:p.Val42Met
ENST00000244571.4:c.124G>A (AARS2)	ENSP00000244571.4:p.Val42Met
ENST00000505802.1:c.855+5558C>T
NM_020745.3:c.124G>A (AARS2)	NP_065796.1:p.Val42Met
XM_005249245.2:c.124G>A (AARS2)	XP_005249302.1:p.Val42Met
XM_011514764.1:c.124G>A (AARS2)	XP_011513066.1:p.Val42Met
XR_241907.2:n.159G>A (AARS2)
XM_005249245.3:c.124G>A (AARS2)	XP_005249302.1:p.Val42Met
XM_011514764.2:c.124G>A (AARS2)	XP_011513066.1:p.Val42Met
NM_020745.4:c.124G>A (AARS2) MANE Select	NP_065796.2:p.Val42Met
NM_001318876.2:c.946-128690C>T (POLR1C)	NP_001305805.1:n.946-128690C>T