Canonical Allele Identifier: CA513170567

Gene: COL6A2

Linked Data

• MyVariant Identifiers: chr21:g.47545377_47545378insC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125463_46125464insC , CM000683.2:g.46125463_46125464insC	GRCh38
NC_000021.8:g.47545377_47545378insC , CM000683.1:g.47545377_47545378insC	GRCh37
NC_000021.7:g.46369805_46369806insC	NCBI36
NG_008675.1:g.32345_32346insC , LRG_476:g.32345_32346insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1817-2_1817-1insC MANE Plus Clinical	ENSP00000380870.1:n.1817-2_1817-1insC
ENST00000300527.9:c.1817-2_1817-1insC MANE Select	ENSP00000300527.4:n.1817-2_1817-1insC
ENST00000409416.6:c.1817-2_1817-1insC	ENSP00000387115.1:n.1817-2_1817-1insC
ENST00000300527.8:c.1817-2_1817-1insC	ENSP00000300527.4:n.1817-2_1817-1insC
ENST00000310645.9:c.1817-2_1817-1insC	ENSP00000312529.5:n.1817-2_1817-1insC
ENST00000397763.5:c.1817-2_1817-1insC	ENSP00000380870.1:n.1817-2_1817-1insC
ENST00000409416.5:c.1817-2_1817-1insC	ENSP00000387115.1:n.1817-2_1817-1insC
ENST00000413758.1:c.486_487insC	ENSP00000395751.1:p.Asp163ArgfsTer3
NM_001849.3:c.1817-2_1817-1insC , LRG_476t1:c.1817-2_1817-1insC	NP_001840.3:n.1817-2_1817-1insC
NM_058174.2:c.1817-2_1817-1insC	NP_478054.2:n.1817-2_1817-1insC
NM_058175.2:c.1817-2_1817-1insC	NP_478055.2:n.1817-2_1817-1insC
XM_011529451.1:c.1817-2_1817-1insC	XP_011527753.1:n.1817-2_1817-1insC
XM_011529452.1:c.1817-2_1817-1insC	XP_011527754.1:n.1817-2_1817-1insC
XR_937438.1:n.1894-2_1894-1insC
XR_937439.1:n.1894-2_1894-1insC
XR_937438.2:n.1901-2_1901-1insC
XR_937439.2:n.1901-2_1901-1insC
NM_001849.4:c.1817-2_1817-1insC MANE Select	NP_001840.3:n.1817-2_1817-1insC
NM_058174.3:c.1817-2_1817-1insC MANE Plus Clinical	NP_478054.2:n.1817-2_1817-1insC
NM_058175.3:c.1817-2_1817-1insC	NP_478055.2:n.1817-2_1817-1insC