Canonical Allele Identifier: CA7543614

Gene: AFG2B

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45421095_45421096del , CM000677.2:g.45421095_45421096del	GRCh38
NC_000015.9:g.45713293_45713294del , CM000677.1:g.45713293_45713294del	GRCh37
NC_000015.8:g.43500585_43500586del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_024063.3:c.2147_2148del MANE Select	NP_076968.2:p.Gln716ArgfsTer8
ENST00000305560.11:c.2147_2148del MANE Select	ENSP00000305494.6:p.Gln716ArgfsTer8
NM_024063.2:c.2147_2148del	NP_076968.2:p.Gln716ArgfsTer8
NR_027635.1:n.2286_2287del
NR_027635.2:n.2271_2272del
NR_136645.1:n.2263_2264del
NR_136645.2:n.2248_2249del
NR_136646.1:n.2481_2482del
NR_136646.2:n.2466_2467del
NR_136647.1:n.2448_2449del
NR_136647.2:n.2433_2434del
NR_136648.1:n.2451_2452del
NR_136648.2:n.2436_2437del
ENST00000305560.10:c.2147_2148del	ENSP00000305494.6:p.Gln716ArgfsTer8
ENST00000531624.1:c.661_662del
ENST00000531970.5:c.*314_*315del	ENSP00000436823.1:n.*314_*315del
ENST00000533841.1:n.279_280del
XR_001751383.2:n.2351_2352del