Canonical Allele Identifier: CA2392507638

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125888_46125891delinsCAAG , CM000683.2:g.46125888_46125891delinsCAAG	GRCh38
NC_000021.8:g.47545802_47545805delinsCAAG , CM000683.1:g.47545802_47545805delinsCAAG	GRCh37
NC_000021.7:g.46370230_46370233delinsCAAG	NCBI36
NG_008675.1:g.32770_32773delinsCAAG , LRG_476:g.32770_32773delinsCAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.2073_2076delinsCAAG MANE Plus Clinical	ENSP00000380870.1:p.Val691=
ENST00000300527.9:c.2073_2076delinsCAAG MANE Select	ENSP00000300527.4:p.Val691=
ENST00000409416.6:c.2073_2076delinsCAAG	ENSP00000387115.1:p.Val691=
ENST00000300527.8:c.2073_2076delinsCAAG	ENSP00000300527.4:p.Val691=
ENST00000310645.9:c.2073_2076delinsCAAG	ENSP00000312529.5:p.Val691=
ENST00000397763.5:c.2073_2076delinsCAAG	ENSP00000380870.1:p.Val691=
ENST00000409416.5:c.2073_2076delinsCAAG	ENSP00000387115.1:p.Val691=
ENST00000413758.1:c.744_747delinsCAAG	ENSP00000395751.1:p.Val248=
NM_001849.3:c.2073_2076delinsCAAG , LRG_476t1:c.2073_2076delinsCAAG	NP_001840.3:p.Val691=
NM_058174.2:c.2073_2076delinsCAAG	NP_478054.2:p.Val691=
NM_058175.2:c.2073_2076delinsCAAG	NP_478055.2:p.Val691=
XM_011529451.1:c.2073_2076delinsCAAG	XP_011527753.1:p.Val691=
XM_011529452.1:c.2073_2076delinsCAAG	XP_011527754.1:p.Val691=
XR_937438.1:n.2150_2153delinsCAAG
XR_937439.1:n.2150_2153delinsCAAG
XR_937438.2:n.2157_2160delinsCAAG
XR_937439.2:n.2157_2160delinsCAAG
NM_001849.4:c.2073_2076delinsCAAG MANE Select	NP_001840.3:p.Val691=
NM_058174.3:c.2073_2076delinsCAAG MANE Plus Clinical	NP_478054.2:p.Val691=
NM_058175.3:c.2073_2076delinsCAAG	NP_478055.2:p.Val691=