Canonical Allele Identifier: CA567154670

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs1561944697
• gnomAD v2: 6-44280988-GGCCCCGCCATGCGGGCGACCTTCGAAT-G
• gnomAD v4: 6-44313251-GGCCCCGCCATGCGGGCGACCTTCGAAT-G
• MyVariant Identifiers: chr6:g.44280989_44281015del (hg19) ; chr6:g.44313252_44313278del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313253_44313279del , CM000668.2:g.44313253_44313279del	GRCh38
NC_000006.11:g.44280990_44281016del , CM000668.1:g.44280990_44281016del	GRCh37
NC_000006.10:g.44388968_44388994del	NCBI36
NG_031952.1:g.5049_5075del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.46_72del (AARS2) MANE Select	ENSP00000244571.4:p.Ile16_Gly24del
ENST00000244571.4:c.46_72del (AARS2)	ENSP00000244571.4:p.Ile16_Gly24del
ENST00000505802.1:c.855+5611_855+5637del
NM_020745.3:c.46_72del (AARS2)	NP_065796.1:p.Ile16_Gly24del
XM_005249245.2:c.46_72del (AARS2)	XP_005249302.1:p.Ile16_Gly24del
XM_011514764.1:c.46_72del (AARS2)	XP_011513066.1:p.Ile16_Gly24del
XR_241907.2:n.81_107del (AARS2)
XM_005249245.3:c.46_72del (AARS2)	XP_005249302.1:p.Ile16_Gly24del
XM_011514764.2:c.46_72del (AARS2)	XP_011513066.1:p.Ile16_Gly24del
NM_020745.4:c.46_72del (AARS2) MANE Select	NP_065796.2:p.Ile16_Gly24del
NM_001318876.2:c.946-128637_946-128611del (POLR1C)	NP_001305805.1:n.946-128637_946-128611del