Canonical Allele Identifier: CA289178

Gene: AARS2 TMEM151B POLR1C

Linked Data

• ClinVar Variation Id: 136214
• ClinVar RCV Id: RCV000123412 ; RCV000283905 ; RCV000676727
• dbSNP Id: rs35623954
• ExAC: 6:44270870 C / T
• gnomAD v2: 6-44270870-C-T
• gnomAD v3: 6-44303133-C-T
• gnomAD v4: 6-44303133-C-T
• MyVariant Identifiers: chr6:g.44270870C>T (hg19) ; chr6:g.44303133C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303133C>T , CM000668.2:g.44303133C>T	GRCh38
NC_000006.11:g.44270870C>T , CM000668.1:g.44270870C>T	GRCh37
NC_000006.10:g.44378848C>T	NCBI36
NG_031952.1:g.15194G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2188G>A (AARS2) MANE Select	ENSP00000244571.4:p.Val730Met
ENST00000244571.4:c.2188G>A (AARS2)	ENSP00000244571.4:p.Val730Met
ENST00000438774.2:c.577-3810C>T (TMEM151B)	ENSP00000409337.2:n.577-3810C>T
ENST00000505802.1:c.314-3810C>T
NM_020745.3:c.2188G>A (AARS2)	NP_065796.1:p.Val730Met
XM_005249245.2:c.1897G>A (AARS2)	XP_005249302.1:p.Val633Met
XM_011514764.1:c.2188G>A (AARS2)	XP_011513066.1:p.Val730Met
XR_241907.2:n.2180+153G>A (AARS2)
XM_005249245.3:c.1897G>A (AARS2)	XP_005249302.1:p.Val633Met
XM_011514764.2:c.2188G>A (AARS2)	XP_011513066.1:p.Val730Met
XM_017011112.1:c.898G>A (AARS2)	XP_016866601.1:p.Val300Met
NM_020745.4:c.2188G>A (AARS2) MANE Select	NP_065796.2:p.Val730Met
NM_001318876.2:c.946-138757C>T (POLR1C)	NP_001305805.1:n.946-138757C>T