Canonical Allele Identifier: CA567154506

Gene: AARS2 TMEM151B POLR1C

Linked Data

• dbSNP Id: rs1561937915
• gnomAD v2: 6-44270693-GA-G
• gnomAD v4: 6-44302956-GA-G
• MyVariant Identifiers: chr6:g.44270694del (hg19) ; chr6:g.44302957del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302958del , CM000668.2:g.44302958del	GRCh38
NC_000006.11:g.44270695del , CM000668.1:g.44270695del	GRCh37
NC_000006.10:g.44378673del	NCBI36
NG_031952.1:g.15370del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2256-47del (AARS2) MANE Select	ENSP00000244571.4:n.2256-47del
ENST00000244571.4:c.2256-47del (AARS2)	ENSP00000244571.4:n.2256-47del
ENST00000438774.2:c.577-3985del (TMEM151B)	ENSP00000409337.2:n.577-3985del
ENST00000505802.1:c.314-3985del
NM_020745.3:c.2256-47del (AARS2)	NP_065796.1:n.2256-47del
XM_005249245.2:c.1965-47del (AARS2)	XP_005249302.1:n.1965-47del
XM_011514764.1:c.2256-47del (AARS2)	XP_011513066.1:n.2256-47del
XR_241907.2:n.2181-47del (AARS2)
XM_005249245.3:c.1965-47del (AARS2)	XP_005249302.1:n.1965-47del
XM_011514764.2:c.2256-47del (AARS2)	XP_011513066.1:n.2256-47del
XM_017011112.1:c.966-47del (AARS2)	XP_016866601.1:n.966-47del
NM_020745.4:c.2256-47del (AARS2) MANE Select	NP_065796.2:n.2256-47del
NM_001318876.2:c.946-138932del (POLR1C)	NP_001305805.1:n.946-138932del