Canonical Allele Identifier: CA2678953069

Gene: AARS2 TMEM151B POLR1C

Linked Data

• gnomAD v4: 6-44302313-A-ACCT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302313_44302314insCCT , CM000668.2:g.44302313_44302314insCCT	GRCh38
NC_000006.11:g.44270050_44270051insCCT , CM000668.1:g.44270050_44270051insCCT	GRCh37
NC_000006.10:g.44378028_44378029insCCT	NCBI36
NG_031952.1:g.16013_16014insAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2487+77_2487+78insAGG (AARS2) MANE Select	ENSP00000244571.4:n.2487+77_2487+78insAGG
ENST00000244571.4:c.2487+77_2487+78insAGG (AARS2)	ENSP00000244571.4:n.2487+77_2487+78insAGG
ENST00000438774.2:c.577-4630_577-4629insCCT (TMEM151B)	ENSP00000409337.2:n.577-4630_577-4629insCCT
ENST00000505802.1:c.314-4630_314-4629insCCT
NM_020745.3:c.2487+77_2487+78insAGG (AARS2)	NP_065796.1:n.2487+77_2487+78insAGG
XM_005249245.2:c.2196+77_2196+78insAGG (AARS2)	XP_005249302.1:n.2196+77_2196+78insAGG
XM_011514764.1:c.2487+77_2487+78insAGG (AARS2)	XP_011513066.1:n.2487+77_2487+78insAGG
XR_241907.2:n.2412+77_2412+78insAGG (AARS2)
XM_005249245.3:c.2196+77_2196+78insAGG (AARS2)	XP_005249302.1:n.2196+77_2196+78insAGG
XM_011514764.2:c.2487+77_2487+78insAGG (AARS2)	XP_011513066.1:n.2487+77_2487+78insAGG
XM_017011112.1:c.1197+77_1197+78insAGG (AARS2)	XP_016866601.1:n.1197+77_1197+78insAGG
NM_020745.4:c.2487+77_2487+78insAGG (AARS2) MANE Select	NP_065796.2:n.2487+77_2487+78insAGG
NM_001318876.2:c.946-139577_946-139576insCCT (POLR1C)	NP_001305805.1:n.946-139577_946-139576insCCT