Canonical Allele Identifier: CA138396347

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs970169654
• gnomAD v3: 6-44313338-G-A
• gnomAD v4: 6-44313338-G-A
• MyVariant Identifiers: chr6:g.44281075G>A (hg19) ; chr6:g.44313338G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313338G>A , CM000668.2:g.44313338G>A	GRCh38
NC_000006.11:g.44281075G>A , CM000668.1:g.44281075G>A	GRCh37
NC_000006.10:g.44389053G>A	NCBI36
NG_031952.1:g.4989C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.-15C>T (AARS2) MANE Select	ENSP00000244571.4:n.-15C>T
ENST00000505802.1:c.855+5696G>A
XM_005249245.2:c.-15C>T (AARS2)	XP_005249302.1:n.-15C>T
XM_011514764.1:c.-15C>T (AARS2)	XP_011513066.1:n.-15C>T
XR_241907.2:n.21C>T (AARS2)
XM_005249245.3:c.-15C>T (AARS2)	XP_005249302.1:n.-15C>T
XM_011514764.2:c.-15C>T (AARS2)	XP_011513066.1:n.-15C>T
NM_020745.4:c.-15C>T (AARS2) MANE Select	NP_065796.2:n.-15C>T
NM_001318876.2:c.946-128552G>A (POLR1C)	NP_001305805.1:n.946-128552G>A