Canonical Allele Identifier: CA138385934

Gene: AARS2 TMEM151B POLR1C

Linked Data

• dbSNP Id: rs1017277903
• gnomAD v2: 6-44270972-T-A
• gnomAD v3: 6-44303235-T-A
• gnomAD v4: 6-44303235-T-A
• MyVariant Identifiers: chr6:g.44270972T>A (hg19) ; chr6:g.44303235T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303235T>A , CM000668.2:g.44303235T>A	GRCh38
NC_000006.11:g.44270972T>A , CM000668.1:g.44270972T>A	GRCh37
NC_000006.10:g.44378950T>A	NCBI36
NG_031952.1:g.15092A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2145+51A>T (AARS2) MANE Select	ENSP00000244571.4:n.2145+51A>T
ENST00000244571.4:c.2145+51A>T (AARS2)	ENSP00000244571.4:n.2145+51A>T
ENST00000438774.2:c.577-3708T>A (TMEM151B)	ENSP00000409337.2:n.577-3708T>A
ENST00000505802.1:c.314-3708T>A
NM_020745.3:c.2145+51A>T (AARS2)	NP_065796.1:n.2145+51A>T
XM_005249245.2:c.1854+51A>T (AARS2)	XP_005249302.1:n.1854+51A>T
XM_011514764.1:c.2145+51A>T (AARS2)	XP_011513066.1:n.2145+51A>T
XR_241907.2:n.2180+51A>T (AARS2)
XM_005249245.3:c.1854+51A>T (AARS2)	XP_005249302.1:n.1854+51A>T
XM_011514764.2:c.2145+51A>T (AARS2)	XP_011513066.1:n.2145+51A>T
XM_017011112.1:c.855+51A>T (AARS2)	XP_016866601.1:n.855+51A>T
NM_020745.4:c.2145+51A>T (AARS2) MANE Select	NP_065796.2:n.2145+51A>T
NM_001318876.2:c.946-138655T>A (POLR1C)	NP_001305805.1:n.946-138655T>A