Canonical Allele Identifier: CA289184

Gene: AARS2 TMEM151B POLR1C

Linked Data

• ClinVar Variation Id: 136217
• ClinVar RCV Id: RCV000123415 ; RCV000354995 ; RCV000972755
• dbSNP Id: rs111325758
• ExAC: 6:44270175 C / T
• gnomAD v2: 6-44270175-C-T
• gnomAD v3: 6-44302438-C-T
• gnomAD v4: 6-44302438-C-T
• MyVariant Identifiers: chr6:g.44270175C>T (hg19) ; chr6:g.44302438C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302438C>T , CM000668.2:g.44302438C>T	GRCh38
NC_000006.11:g.44270175C>T , CM000668.1:g.44270175C>T	GRCh37
NC_000006.10:g.44378153C>T	NCBI36
NG_031952.1:g.15889G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2440G>A (AARS2) MANE Select	ENSP00000244571.4:p.Val814Met
ENST00000244571.4:c.2440G>A (AARS2)	ENSP00000244571.4:p.Val814Met
ENST00000438774.2:c.577-4505C>T (TMEM151B)	ENSP00000409337.2:n.577-4505C>T
ENST00000505802.1:c.314-4505C>T
NM_020745.3:c.2440G>A (AARS2)	NP_065796.1:p.Val814Met
XM_005249245.2:c.2149G>A (AARS2)	XP_005249302.1:p.Val717Met
XM_011514764.1:c.2440G>A (AARS2)	XP_011513066.1:p.Val814Met
XR_241907.2:n.2365G>A (AARS2)
XM_005249245.3:c.2149G>A (AARS2)	XP_005249302.1:p.Val717Met
XM_011514764.2:c.2440G>A (AARS2)	XP_011513066.1:p.Val814Met
XM_017011112.1:c.1150G>A (AARS2)	XP_016866601.1:p.Val384Met
NM_020745.4:c.2440G>A (AARS2) MANE Select	NP_065796.2:p.Val814Met
NM_001318876.2:c.946-139452C>T (POLR1C)	NP_001305805.1:n.946-139452C>T