Canonical Allele Identifier: CA15428640

Gene: AARS2 TMEM151B POLR1C

Linked Data

• ClinVar Variation Id: 1294329
• ClinVar RCV Id: RCV001716178
• dbSNP Id: rs325004
• gnomAD v2: 6-44270365-C-G
• gnomAD v3: 6-44302628-C-G
• gnomAD v4: 6-44302628-C-G
• MyVariant Identifiers: chr6:g.44270365C>G (hg19) ; chr6:g.44302628C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302628C>G , CM000668.2:g.44302628C>G	GRCh38
NC_000006.11:g.44270365C>G , CM000668.1:g.44270365C>G	GRCh37
NC_000006.10:g.44378343C>G	NCBI36
NG_031952.1:g.15699G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2365-115G>C (AARS2) MANE Select	ENSP00000244571.4:n.2365-115G>C
ENST00000244571.4:c.2365-115G>C (AARS2)	ENSP00000244571.4:n.2365-115G>C
ENST00000438774.2:c.577-4315C>G (TMEM151B)	ENSP00000409337.2:n.577-4315C>G
ENST00000505802.1:c.314-4315C>G
NM_020745.3:c.2365-115G>C (AARS2)	NP_065796.1:n.2365-115G>C
XM_005249245.2:c.2074-115G>C (AARS2)	XP_005249302.1:n.2074-115G>C
XM_011514764.1:c.2365-115G>C (AARS2)	XP_011513066.1:n.2365-115G>C
XR_241907.2:n.2290-115G>C (AARS2)
XM_005249245.3:c.2074-115G>C (AARS2)	XP_005249302.1:n.2074-115G>C
XM_011514764.2:c.2365-115G>C (AARS2)	XP_011513066.1:n.2365-115G>C
XM_017011112.1:c.1075-115G>C (AARS2)	XP_016866601.1:n.1075-115G>C
NM_020745.4:c.2365-115G>C (AARS2) MANE Select	NP_065796.2:n.2365-115G>C
NM_001318876.2:c.946-139262C>G (POLR1C)	NP_001305805.1:n.946-139262C>G