Canonical Allele Identifier: CA2770869186

Gene: AARS2 TMEM151B POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302565_44302566del , CM000668.2:g.44302565_44302566del	GRCh38
NC_000006.11:g.44270302_44270303del , CM000668.1:g.44270302_44270303del	GRCh37
NC_000006.10:g.44378280_44378281del	NCBI36
NG_031952.1:g.15761_15762del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2365-53_2365-52del (AARS2) MANE Select	ENSP00000244571.4:n.2365-53_2365-52del
ENST00000244571.4:c.2365-53_2365-52del (AARS2)	ENSP00000244571.4:n.2365-53_2365-52del
ENST00000438774.2:c.577-4378_577-4377del (TMEM151B)	ENSP00000409337.2:n.577-4378_577-4377del
ENST00000505802.1:c.314-4378_314-4377del
NM_020745.3:c.2365-53_2365-52del (AARS2)	NP_065796.1:n.2365-53_2365-52del
XM_005249245.2:c.2074-53_2074-52del (AARS2)	XP_005249302.1:n.2074-53_2074-52del
XM_011514764.1:c.2365-53_2365-52del (AARS2)	XP_011513066.1:n.2365-53_2365-52del
XR_241907.2:n.2290-53_2290-52del (AARS2)
XM_005249245.3:c.2074-53_2074-52del (AARS2)	XP_005249302.1:n.2074-53_2074-52del
XM_011514764.2:c.2365-53_2365-52del (AARS2)	XP_011513066.1:n.2365-53_2365-52del
XM_017011112.1:c.1075-53_1075-52del (AARS2)	XP_016866601.1:n.1075-53_1075-52del
NM_020745.4:c.2365-53_2365-52del (AARS2) MANE Select	NP_065796.2:n.2365-53_2365-52del
NM_001318876.2:c.946-139325_946-139324del (POLR1C)	NP_001305805.1:n.946-139325_946-139324del