Canonical Allele Identifier: CA10627050

Gene: AARS2 TMEM151B POLR1C

Linked Data

• ClinVar Variation Id: 357050
• ClinVar RCV Id: RCV000341639
• dbSNP Id: rs4714775
• gnomAD v2: 6-44267943-C-T
• gnomAD v3: 6-44300206-C-T
• gnomAD v4: 6-44300206-C-T
• MyVariant Identifiers: chr6:g.44267943C>T (hg19) ; chr6:g.44300206C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44300206C>T , CM000668.2:g.44300206C>T	GRCh38
NC_000006.11:g.44267943C>T , CM000668.1:g.44267943C>T	GRCh37
NC_000006.10:g.44375921C>T	NCBI36
NG_031952.1:g.18121G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.*341G>A (AARS2) MANE Select	ENSP00000244571.4:n.*341G>A
ENST00000244571.4:c.*341G>A (AARS2)	ENSP00000244571.4:n.*341G>A
ENST00000438774.2:c.577-6737C>T (TMEM151B)	ENSP00000409337.2:n.577-6737C>T
ENST00000505802.1:c.314-6737C>T
NM_020745.3:c.*341G>A (AARS2)	NP_065796.1:n.*341G>A
XM_005249245.2:c.*341G>A (AARS2)	XP_005249302.1:n.*341G>A
XM_011514764.1:c.2793+950G>A (AARS2)	XP_011513066.1:n.2793+950G>A
XM_005249245.3:c.*341G>A (AARS2)	XP_005249302.1:n.*341G>A
XM_011514764.2:c.2793+950G>A (AARS2)	XP_011513066.1:n.2793+950G>A
XM_017011112.1:c.*341G>A (AARS2)	XP_016866601.1:n.*341G>A
NM_020745.4:c.*341G>A (AARS2) MANE Select	NP_065796.2:n.*341G>A
NM_001318876.2:c.946-141684C>T (POLR1C)	NP_001305805.1:n.946-141684C>T