Canonical Allele Identifier: CA450390914

Gene: AARS2 TMEM151B POLR1C

Linked Data

• MyVariant Identifiers: chr6:g.44270808A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303071A>G , CM000668.2:g.44303071A>G	GRCh38
NC_000006.11:g.44270808A>G , CM000668.1:g.44270808A>G	GRCh37
NC_000006.10:g.44378786A>G	NCBI36
NG_031952.1:g.15256T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.2250T>C (AARS2) MANE Select	ENSP00000244571.4:p.Cys750=
ENST00000244571.4:c.2250T>C (AARS2)	ENSP00000244571.4:p.Cys750=
ENST00000438774.2:c.577-3872A>G (TMEM151B)	ENSP00000409337.2:n.577-3872A>G
ENST00000505802.1:c.314-3872A>G
NM_020745.3:c.2250T>C (AARS2)	NP_065796.1:p.Cys750=
XM_005249245.2:c.1959T>C (AARS2)	XP_005249302.1:p.Cys653=
XM_011514764.1:c.2250T>C (AARS2)	XP_011513066.1:p.Cys750=
XR_241907.2:n.2181-161T>C (AARS2)
XM_005249245.3:c.1959T>C (AARS2)	XP_005249302.1:p.Cys653=
XM_011514764.2:c.2250T>C (AARS2)	XP_011513066.1:p.Cys750=
XM_017011112.1:c.960T>C (AARS2)	XP_016866601.1:p.Cys320=
NM_020745.4:c.2250T>C (AARS2) MANE Select	NP_065796.2:p.Cys750=
NM_001318876.2:c.946-138819A>G (POLR1C)	NP_001305805.1:n.946-138819A>G