Canonical Allele Identifier: CA1624924230

Gene: AARS2 TMEM151B POLR1C

Linked Data

• dbSNP Id: rs1785513377
• gnomAD v4: 6-44303214-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303215del , CM000668.2:g.44303215del	GRCh38
NC_000006.11:g.44270952del , CM000668.1:g.44270952del	GRCh37
NC_000006.10:g.44378930del	NCBI36
NG_031952.1:g.15112del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2146-40del (AARS2) MANE Select	ENSP00000244571.4:n.2146-40del
ENST00000244571.4:c.2146-40del (AARS2)	ENSP00000244571.4:n.2146-40del
ENST00000438774.2:c.577-3728del (TMEM151B)	ENSP00000409337.2:n.577-3728del
ENST00000505802.1:c.314-3728del
NM_020745.3:c.2146-40del (AARS2)	NP_065796.1:n.2146-40del
XM_005249245.2:c.1855-40del (AARS2)	XP_005249302.1:n.1855-40del
XM_011514764.1:c.2146-40del (AARS2)	XP_011513066.1:n.2146-40del
XR_241907.2:n.2180+71del (AARS2)
XM_005249245.3:c.1855-40del (AARS2)	XP_005249302.1:n.1855-40del
XM_011514764.2:c.2146-40del (AARS2)	XP_011513066.1:n.2146-40del
XM_017011112.1:c.856-40del (AARS2)	XP_016866601.1:n.856-40del
NM_020745.4:c.2146-40del (AARS2) MANE Select	NP_065796.2:n.2146-40del
NM_001318876.2:c.946-138675del (POLR1C)	NP_001305805.1:n.946-138675del