Canonical Allele Identifier: CA2392507396

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125557_46125560delinsTTCG , CM000683.2:g.46125557_46125560delinsTTCG	GRCh38
NC_000021.8:g.47545471_47545474delinsTTCG , CM000683.1:g.47545471_47545474delinsTTCG	GRCh37
NC_000021.7:g.46369899_46369902delinsTTCG	NCBI36
NG_008675.1:g.32439_32442delinsTTCG , LRG_476:g.32439_32442delinsTTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1909_1912delinsTTCG MANE Plus Clinical	ENSP00000380870.1:p.Phe637=
ENST00000300527.9:c.1909_1912delinsTTCG MANE Select	ENSP00000300527.4:p.Phe637=
ENST00000409416.6:c.1909_1912delinsTTCG	ENSP00000387115.1:p.Phe637=
ENST00000300527.8:c.1909_1912delinsTTCG	ENSP00000300527.4:p.Phe637=
ENST00000310645.9:c.1909_1912delinsTTCG	ENSP00000312529.5:p.Phe637=
ENST00000397763.5:c.1909_1912delinsTTCG	ENSP00000380870.1:p.Phe637=
ENST00000409416.5:c.1909_1912delinsTTCG	ENSP00000387115.1:p.Phe637=
ENST00000413758.1:c.580_583delinsTTCG	ENSP00000395751.1:p.Phe194=
NM_001849.3:c.1909_1912delinsTTCG , LRG_476t1:c.1909_1912delinsTTCG	NP_001840.3:p.Phe637=
NM_058174.2:c.1909_1912delinsTTCG	NP_478054.2:p.Phe637=
NM_058175.2:c.1909_1912delinsTTCG	NP_478055.2:p.Phe637=
XM_011529451.1:c.1909_1912delinsTTCG	XP_011527753.1:p.Phe637=
XM_011529452.1:c.1909_1912delinsTTCG	XP_011527754.1:p.Phe637=
XR_937438.1:n.1986_1989delinsTTCG
XR_937439.1:n.1986_1989delinsTTCG
XR_937438.2:n.1993_1996delinsTTCG
XR_937439.2:n.1993_1996delinsTTCG
NM_001849.4:c.1909_1912delinsTTCG MANE Select	NP_001840.3:p.Phe637=
NM_058174.3:c.1909_1912delinsTTCG MANE Plus Clinical	NP_478054.2:p.Phe637=
NM_058175.3:c.1909_1912delinsTTCG	NP_478055.2:p.Phe637=