Canonical Allele Identifier: CA450391012

Gene: AARS2 TMEM151B POLR1C

Linked Data

• ClinVar Variation Id: 1957705
• ClinVar RCV Id: RCV002690828
• dbSNP Id: rs1414610564
• gnomAD v2: 6-44271041-G-C
• gnomAD v3: 6-44303304-G-C
• gnomAD v4: 6-44303304-G-C
• MyVariant Identifiers: chr6:g.44271041G>C (hg19) ; chr6:g.44303304G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303304G>C , CM000668.2:g.44303304G>C	GRCh38
NC_000006.11:g.44271041G>C , CM000668.1:g.44271041G>C	GRCh37
NC_000006.10:g.44379019G>C	NCBI36
NG_031952.1:g.15023C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2127C>G (AARS2) MANE Select	ENSP00000244571.4:p.Gly709=
ENST00000244571.4:c.2127C>G (AARS2)	ENSP00000244571.4:p.Gly709=
ENST00000438774.2:c.577-3639G>C (TMEM151B)	ENSP00000409337.2:n.577-3639G>C
ENST00000505802.1:c.314-3639G>C
NM_020745.3:c.2127C>G (AARS2)	NP_065796.1:p.Gly709=
XM_005249245.2:c.1836C>G (AARS2)	XP_005249302.1:p.Gly612=
XM_011514764.1:c.2127C>G (AARS2)	XP_011513066.1:p.Gly709=
XR_241907.2:n.2162C>G (AARS2)
XM_005249245.3:c.1836C>G (AARS2)	XP_005249302.1:p.Gly612=
XM_011514764.2:c.2127C>G (AARS2)	XP_011513066.1:p.Gly709=
XM_017011112.1:c.837C>G (AARS2)	XP_016866601.1:p.Gly279=
NM_020745.4:c.2127C>G (AARS2) MANE Select	NP_065796.2:p.Gly709=
NM_001318876.2:c.946-138586G>C (POLR1C)	NP_001305805.1:n.946-138586G>C