Canonical Allele Identifier: CA3834303

Gene: AARS2 TMEM151B POLR1C

Linked Data

• dbSNP Id: rs769852402
• ExAC: 6:44272817 T / C
• gnomAD v2: 6-44272817-T-C
• gnomAD v3: 6-44305080-T-C
• gnomAD v4: 6-44305080-T-C
• COSMIC: COSM1672461
• MyVariant Identifiers: chr6:g.44272817T>C (hg19) ; chr6:g.44305080T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44305080T>C , CM000668.2:g.44305080T>C	GRCh38
NC_000006.11:g.44272817T>C , CM000668.1:g.44272817T>C	GRCh37
NC_000006.10:g.44380795T>C	NCBI36
NG_031952.1:g.13247A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.1553A>G (AARS2) MANE Select	ENSP00000244571.4:p.Tyr518Cys
ENST00000244571.4:c.1553A>G (AARS2)	ENSP00000244571.4:p.Tyr518Cys
ENST00000438774.2:c.577-1863T>C (TMEM151B)	ENSP00000409337.2:n.577-1863T>C
ENST00000505802.1:c.314-1863T>C
NM_020745.3:c.1553A>G (AARS2)	NP_065796.1:p.Tyr518Cys
XM_005249245.2:c.1262A>G (AARS2)	XP_005249302.1:p.Tyr421Cys
XM_011514764.1:c.1553A>G (AARS2)	XP_011513066.1:p.Tyr518Cys
XR_241907.2:n.1588A>G (AARS2)
XM_005249245.3:c.1262A>G (AARS2)	XP_005249302.1:p.Tyr421Cys
XM_011514764.2:c.1553A>G (AARS2)	XP_011513066.1:p.Tyr518Cys
XM_017011112.1:c.263A>G (AARS2)	XP_016866601.1:p.Tyr88Cys
NM_020745.4:c.1553A>G (AARS2) MANE Select	NP_065796.2:p.Tyr518Cys
NM_001318876.2:c.946-136810T>C (POLR1C)	NP_001305805.1:n.946-136810T>C