Canonical Allele Identifier: CA323721

Gene: AARS2 TMEM151B POLR1C

Linked Data

• ClinVar Variation Id: 213959
• ClinVar RCV Id: RCV000199192 ; RCV001161730 ; RCV003165451
• dbSNP Id: rs376103315
• ExAC: 6:44269844 G / C
• gnomAD v2: 6-44269844-G-C
• gnomAD v3: 6-44302107-G-C
• gnomAD v4: 6-44302107-G-C
• MyVariant Identifiers: chr6:g.44269844G>C (hg19) ; chr6:g.44302107G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302107G>C , CM000668.2:g.44302107G>C	GRCh38
NC_000006.11:g.44269844G>C , CM000668.1:g.44269844G>C	GRCh37
NC_000006.10:g.44377822G>C	NCBI36
NG_031952.1:g.16220C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2551C>G (AARS2) MANE Select	ENSP00000244571.4:p.Leu851Val
ENST00000244571.4:c.2551C>G (AARS2)	ENSP00000244571.4:p.Leu851Val
ENST00000438774.2:c.577-4836G>C (TMEM151B)	ENSP00000409337.2:n.577-4836G>C
ENST00000505802.1:c.314-4836G>C
NM_020745.3:c.2551C>G (AARS2)	NP_065796.1:p.Leu851Val
XM_005249245.2:c.2260C>G (AARS2)	XP_005249302.1:p.Leu754Val
XM_011514764.1:c.2551C>G (AARS2)	XP_011513066.1:p.Leu851Val
XR_241907.2:n.2476C>G (AARS2)
XM_005249245.3:c.2260C>G (AARS2)	XP_005249302.1:p.Leu754Val
XM_011514764.2:c.2551C>G (AARS2)	XP_011513066.1:p.Leu851Val
XM_017011112.1:c.1261C>G (AARS2)	XP_016866601.1:p.Leu421Val
NM_020745.4:c.2551C>G (AARS2) MANE Select	NP_065796.2:p.Leu851Val
NM_001318876.2:c.946-139783G>C (POLR1C)	NP_001305805.1:n.946-139783G>C