Canonical Allele Identifier: CA2678954256

Gene: AARS2 POLR1C

Linked Data

• gnomAD v4: 6-44311349-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311349C>G , CM000668.2:g.44311349C>G	GRCh38
NC_000006.11:g.44279086C>G , CM000668.1:g.44279086C>G	GRCh37
NC_000006.10:g.44387064C>G	NCBI36
NG_031952.1:g.6978G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.581+41G>C (AARS2) MANE Select	ENSP00000244571.4:n.581+41G>C
ENST00000244571.4:c.581+41G>C (AARS2)	ENSP00000244571.4:n.581+41G>C
ENST00000505802.1:c.855+3707C>G
NM_020745.3:c.581+41G>C (AARS2)	NP_065796.1:n.581+41G>C
XM_005249245.2:c.581+41G>C (AARS2)	XP_005249302.1:n.581+41G>C
XM_011514764.1:c.581+41G>C (AARS2)	XP_011513066.1:n.581+41G>C
XR_241907.2:n.616+41G>C (AARS2)
XM_005249245.3:c.581+41G>C (AARS2)	XP_005249302.1:n.581+41G>C
XM_011514764.2:c.581+41G>C (AARS2)	XP_011513066.1:n.581+41G>C
XM_017011112.1:c.-438+41G>C (AARS2)	XP_016866601.1:n.-438+41G>C
NM_020745.4:c.581+41G>C (AARS2) MANE Select	NP_065796.2:n.581+41G>C
NM_001318876.2:c.946-130541C>G (POLR1C)	NP_001305805.1:n.946-130541C>G