Canonical Allele Identifier: CA2577629931

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125459_46125460insA , CM000683.2:g.46125459_46125460insA	GRCh38
NC_000021.8:g.47545373_47545374insA , CM000683.1:g.47545373_47545374insA	GRCh37
NC_000021.7:g.46369801_46369802insA	NCBI36
NG_008675.1:g.32341_32342insA , LRG_476:g.32341_32342insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1817-6_1817-5insA MANE Plus Clinical	ENSP00000380870.1:n.1817-6_1817-5insA
ENST00000300527.9:c.1817-6_1817-5insA MANE Select	ENSP00000300527.4:n.1817-6_1817-5insA
ENST00000409416.6:c.1817-6_1817-5insA	ENSP00000387115.1:n.1817-6_1817-5insA
ENST00000300527.8:c.1817-6_1817-5insA	ENSP00000300527.4:n.1817-6_1817-5insA
ENST00000310645.9:c.1817-6_1817-5insA	ENSP00000312529.5:n.1817-6_1817-5insA
ENST00000397763.5:c.1817-6_1817-5insA	ENSP00000380870.1:n.1817-6_1817-5insA
ENST00000409416.5:c.1817-6_1817-5insA	ENSP00000387115.1:n.1817-6_1817-5insA
ENST00000413758.1:c.482_483insA	ENSP00000395751.1:p.Asp163ArgfsTer3
NM_001849.3:c.1817-6_1817-5insA , LRG_476t1:c.1817-6_1817-5insA	NP_001840.3:n.1817-6_1817-5insA
NM_058174.2:c.1817-6_1817-5insA	NP_478054.2:n.1817-6_1817-5insA
NM_058175.2:c.1817-6_1817-5insA	NP_478055.2:n.1817-6_1817-5insA
XM_011529451.1:c.1817-6_1817-5insA	XP_011527753.1:n.1817-6_1817-5insA
XM_011529452.1:c.1817-6_1817-5insA	XP_011527754.1:n.1817-6_1817-5insA
XR_937438.1:n.1894-6_1894-5insA
XR_937439.1:n.1894-6_1894-5insA
XR_937438.2:n.1901-6_1901-5insA
XR_937439.2:n.1901-6_1901-5insA
NM_001849.4:c.1817-6_1817-5insA MANE Select	NP_001840.3:n.1817-6_1817-5insA
NM_058174.3:c.1817-6_1817-5insA MANE Plus Clinical	NP_478054.2:n.1817-6_1817-5insA
NM_058175.3:c.1817-6_1817-5insA	NP_478055.2:n.1817-6_1817-5insA