Canonical Allele Identifier: CA2678952974

Gene: AARS2 TMEM151B POLR1C

Linked Data

• gnomAD v4: 6-44301962-CAGCCTCTGACT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44301963_44301973del , CM000668.2:g.44301963_44301973del	GRCh38
NC_000006.11:g.44269700_44269710del , CM000668.1:g.44269700_44269710del	GRCh37
NC_000006.10:g.44377678_44377688del	NCBI36
NG_031952.1:g.16354_16364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2598+87_2598+97del (AARS2) MANE Select	ENSP00000244571.4:n.2598+87_2598+97del
ENST00000244571.4:c.2598+87_2598+97del (AARS2)	ENSP00000244571.4:n.2598+87_2598+97del
ENST00000438774.2:c.577-4980_577-4970del (TMEM151B)	ENSP00000409337.2:n.577-4980_577-4970del
ENST00000505802.1:c.314-4980_314-4970del
NM_020745.3:c.2598+87_2598+97del (AARS2)	NP_065796.1:n.2598+87_2598+97del
XM_005249245.2:c.2307+87_2307+97del (AARS2)	XP_005249302.1:n.2307+87_2307+97del
XM_011514764.1:c.2598+87_2598+97del (AARS2)	XP_011513066.1:n.2598+87_2598+97del
XR_241907.2:n.2523+87_2523+97del (AARS2)
XM_005249245.3:c.2307+87_2307+97del (AARS2)	XP_005249302.1:n.2307+87_2307+97del
XM_011514764.2:c.2598+87_2598+97del (AARS2)	XP_011513066.1:n.2598+87_2598+97del
XM_017011112.1:c.1308+87_1308+97del (AARS2)	XP_016866601.1:n.1308+87_1308+97del
NM_020745.4:c.2598+87_2598+97del (AARS2) MANE Select	NP_065796.2:n.2598+87_2598+97del
NM_001318876.2:c.946-139927_946-139917del (POLR1C)	NP_001305805.1:n.946-139927_946-139917del