Canonical Allele Identifier: CA289186

Gene: AARS2 TMEM151B POLR1C

Linked Data

• ClinVar Variation Id: 136218
• ClinVar RCV Id: RCV000123416 ; RCV000318932 ; RCV000950707 ; RCV004551211
• dbSNP Id: rs35783144
• ExAC: 6:44269847 T / C
• gnomAD v2: 6-44269847-T-C
• gnomAD v3: 6-44302110-T-C
• gnomAD v4: 6-44302110-T-C
• MyVariant Identifiers: chr6:g.44269847T>C (hg19) ; chr6:g.44302110T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302110T>C , CM000668.2:g.44302110T>C	GRCh38
NC_000006.11:g.44269847T>C , CM000668.1:g.44269847T>C	GRCh37
NC_000006.10:g.44377825T>C	NCBI36
NG_031952.1:g.16217A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2548A>G (AARS2) MANE Select	ENSP00000244571.4:p.Met850Val
ENST00000244571.4:c.2548A>G (AARS2)	ENSP00000244571.4:p.Met850Val
ENST00000438774.2:c.577-4833T>C (TMEM151B)	ENSP00000409337.2:n.577-4833T>C
ENST00000505802.1:c.314-4833T>C
NM_020745.3:c.2548A>G (AARS2)	NP_065796.1:p.Met850Val
XM_005249245.2:c.2257A>G (AARS2)	XP_005249302.1:p.Met753Val
XM_011514764.1:c.2548A>G (AARS2)	XP_011513066.1:p.Met850Val
XR_241907.2:n.2473A>G (AARS2)
XM_005249245.3:c.2257A>G (AARS2)	XP_005249302.1:p.Met753Val
XM_011514764.2:c.2548A>G (AARS2)	XP_011513066.1:p.Met850Val
XM_017011112.1:c.1258A>G (AARS2)	XP_016866601.1:p.Met420Val
NM_020745.4:c.2548A>G (AARS2) MANE Select	NP_065796.2:p.Met850Val
NM_001318876.2:c.946-139780T>C (POLR1C)	NP_001305805.1:n.946-139780T>C