Canonical Allele Identifier: CA1624924203

Gene: AARS2 TMEM151B POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303211_44303214delinsAAGG , CM000668.2:g.44303211_44303214delinsAAGG	GRCh38
NC_000006.11:g.44270948_44270951delinsAAGG , CM000668.1:g.44270948_44270951delinsAAGG	GRCh37
NC_000006.10:g.44378926_44378929delinsAAGG	NCBI36
NG_031952.1:g.15113_15116delinsCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2146-39_2146-36delinsCCTT (AARS2) MANE Select	ENSP00000244571.4:n.2146-39_2146-36delinsCCTT
ENST00000244571.4:c.2146-39_2146-36delinsCCTT (AARS2)	ENSP00000244571.4:n.2146-39_2146-36delinsCCTT
ENST00000438774.2:c.577-3732_577-3729delinsAAGG (TMEM151B)	ENSP00000409337.2:n.577-3732_577-3729delinsAAGG
ENST00000505802.1:c.314-3732_314-3729delinsAAGG
NM_020745.3:c.2146-39_2146-36delinsCCTT (AARS2)	NP_065796.1:n.2146-39_2146-36delinsCCTT
XM_005249245.2:c.1855-39_1855-36delinsCCTT (AARS2)	XP_005249302.1:n.1855-39_1855-36delinsCCTT
XM_011514764.1:c.2146-39_2146-36delinsCCTT (AARS2)	XP_011513066.1:n.2146-39_2146-36delinsCCTT
XR_241907.2:n.2180+72_2180+75delinsCCTT (AARS2)
XM_005249245.3:c.1855-39_1855-36delinsCCTT (AARS2)	XP_005249302.1:n.1855-39_1855-36delinsCCTT
XM_011514764.2:c.2146-39_2146-36delinsCCTT (AARS2)	XP_011513066.1:n.2146-39_2146-36delinsCCTT
XM_017011112.1:c.856-39_856-36delinsCCTT (AARS2)	XP_016866601.1:n.856-39_856-36delinsCCTT
NM_020745.4:c.2146-39_2146-36delinsCCTT (AARS2) MANE Select	NP_065796.2:n.2146-39_2146-36delinsCCTT
NM_001318876.2:c.946-138679_946-138676delinsAAGG (POLR1C)	NP_001305805.1:n.946-138679_946-138676delinsAAGG