Canonical Allele Identifier: CA2678955202

Gene: AARS2 POLR1C

Linked Data

• gnomAD v4: 6-44313357-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313357G>C , CM000668.2:g.44313357G>C	GRCh38
NC_000006.11:g.44281094G>C , CM000668.1:g.44281094G>C	GRCh37
NC_000006.10:g.44389072G>C	NCBI36
NG_031952.1:g.4970C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505802.1:c.855+5715G>C
XM_005249245.2:c.-34C>G (AARS2)	XP_005249302.1:n.-34C>G
XM_011514764.1:c.-34C>G (AARS2)	XP_011513066.1:n.-34C>G
XR_241907.2:n.2C>G (AARS2)
XM_005249245.3:c.-34C>G (AARS2)	XP_005249302.1:n.-34C>G
XM_011514764.2:c.-34C>G (AARS2)	XP_011513066.1:n.-34C>G
NM_001318876.2:c.946-128533G>C (POLR1C)	NP_001305805.1:n.946-128533G>C