Canonical Allele Identifier: CA1162576956

Gene: COL8A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.36099405dup , CM000663.2:g.36099405dup	GRCh38
NC_000001.10:g.36565006dup , CM000663.1:g.36565006dup	GRCh37
NC_000001.9:g.36337593dup	NCBI36
NG_016245.2:g.30685dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397799.2:c.281dup MANE Select	ENSP00000380901.1:p.Gly95TrpfsTer?
ENST00000303143.9:c.281dup	ENSP00000305913.4:p.Gly95TrpfsTer?
ENST00000397799.1:c.281dup	ENSP00000380901.1:p.Gly95TrpfsTer?
ENST00000481785.1:c.86dup	ENSP00000436433.1:p.Gly30TrpfsTer?
ENST00000615990.1:c.281dup	ENSP00000484406.1:p.Gly95TrpfsTer?
NM_001294347.1:c.86dup	NP_001281276.1:p.Gly30TrpfsTer?
NM_005202.3:c.281dup	NP_005193.1:p.Gly95TrpfsTer?
XM_005270477.2:c.512dup	XP_005270534.1:p.Gly172TrpfsTer?
XM_005270477.3:c.512dup	XP_005270534.1:p.Gly172TrpfsTer?
NM_005202.4:c.281dup MANE Select	NP_005193.1:p.Gly95TrpfsTer?
NM_001294347.2:c.86dup	NP_001281276.1:p.Gly30TrpfsTer?