Canonical Allele Identifier: CA450316610

Gene: AARS2 TMEM151B POLR1C

Linked Data

• MyVariant Identifiers: chr6:g.44272813G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44305076G>C , CM000668.2:g.44305076G>C	GRCh38
NC_000006.11:g.44272813G>C , CM000668.1:g.44272813G>C	GRCh37
NC_000006.10:g.44380791G>C	NCBI36
NG_031952.1:g.13251C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.1557C>G (AARS2) MANE Select	ENSP00000244571.4:p.Ser519=
ENST00000244571.4:c.1557C>G (AARS2)	ENSP00000244571.4:p.Ser519=
ENST00000438774.2:c.577-1867G>C (TMEM151B)	ENSP00000409337.2:n.577-1867G>C
ENST00000505802.1:c.314-1867G>C
NM_020745.3:c.1557C>G (AARS2)	NP_065796.1:p.Ser519=
XM_005249245.2:c.1266C>G (AARS2)	XP_005249302.1:p.Ser422=
XM_011514764.1:c.1557C>G (AARS2)	XP_011513066.1:p.Ser519=
XR_241907.2:n.1592C>G (AARS2)
XM_005249245.3:c.1266C>G (AARS2)	XP_005249302.1:p.Ser422=
XM_011514764.2:c.1557C>G (AARS2)	XP_011513066.1:p.Ser519=
XM_017011112.1:c.267C>G (AARS2)	XP_016866601.1:p.Ser89=
NM_020745.4:c.1557C>G (AARS2) MANE Select	NP_065796.2:p.Ser519=
NM_001318876.2:c.946-136814G>C (POLR1C)	NP_001305805.1:n.946-136814G>C