Canonical Allele Identifier: CA3833801

Gene: AARS2 TMEM151B POLR1C

Linked Data

• ClinVar Variation Id: 357054
• ClinVar RCV Id: RCV001705523
• dbSNP Id: rs772455600
• ExAC: 6:44268275 G / A
• gnomAD v2: 6-44268275-G-A
• gnomAD v3: 6-44300538-G-A
• gnomAD v4: 6-44300538-G-A
• COSMIC: COSN24310528
• MyVariant Identifiers: chr6:g.44268275G>A (hg19) ; chr6:g.44300538G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44300538G>A , CM000668.2:g.44300538G>A	GRCh38
NC_000006.11:g.44268275G>A , CM000668.1:g.44268275G>A	GRCh37
NC_000006.10:g.44376253G>A	NCBI36
NG_031952.1:g.17789C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.*9C>T (AARS2) MANE Select	ENSP00000244571.4:n.*9C>T
ENST00000244571.4:c.*9C>T (AARS2)	ENSP00000244571.4:n.*9C>T
ENST00000438774.2:c.577-6405G>A (TMEM151B)	ENSP00000409337.2:n.577-6405G>A
ENST00000505802.1:c.314-6405G>A
NM_020745.3:c.*9C>T (AARS2)	NP_065796.1:n.*9C>T
XM_005249245.2:c.*9C>T (AARS2)	XP_005249302.1:n.*9C>T
XM_011514764.1:c.2793+618C>T (AARS2)	XP_011513066.1:n.2793+618C>T
XR_241907.2:n.2892C>T (AARS2)
XM_005249245.3:c.*9C>T (AARS2)	XP_005249302.1:n.*9C>T
XM_011514764.2:c.2793+618C>T (AARS2)	XP_011513066.1:n.2793+618C>T
XM_017011112.1:c.*9C>T (AARS2)	XP_016866601.1:n.*9C>T
NM_020745.4:c.*9C>T (AARS2) MANE Select	NP_065796.2:n.*9C>T
NM_001318876.2:c.946-141352G>A (POLR1C)	NP_001305805.1:n.946-141352G>A