Canonical Allele Identifier: CA2739267734

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 2837982
• ClinVar RCV Id: RCV003631941

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125629_46125655dup , CM000683.2:g.46125629_46125655dup	GRCh38
NC_000021.8:g.47545543_47545569dup , CM000683.1:g.47545543_47545569dup	GRCh37
NC_000021.7:g.46369971_46369997dup	NCBI36
NG_008675.1:g.32511_32537dup , LRG_476:g.32511_32537dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1969+12_1969+38dup MANE Plus Clinical	ENSP00000380870.1:n.1969+12_1969+38dup
ENST00000300527.9:c.1969+12_1969+38dup MANE Select	ENSP00000300527.4:n.1969+12_1969+38dup
ENST00000409416.6:c.1969+12_1969+38dup	ENSP00000387115.1:n.1969+12_1969+38dup
ENST00000300527.8:c.1969+12_1969+38dup	ENSP00000300527.4:n.1969+12_1969+38dup
ENST00000310645.9:c.1969+12_1969+38dup	ENSP00000312529.5:n.1969+12_1969+38dup
ENST00000397763.5:c.1969+12_1969+38dup	ENSP00000380870.1:n.1969+12_1969+38dup
ENST00000409416.5:c.1969+12_1969+38dup	ENSP00000387115.1:n.1969+12_1969+38dup
ENST00000413758.1:c.640+12_640+38dup	ENSP00000395751.1:n.640+12_640+38dup
NM_001849.3:c.1969+12_1969+38dup , LRG_476t1:c.1969+12_1969+38dup	NP_001840.3:n.1969+12_1969+38dup
NM_058174.2:c.1969+12_1969+38dup	NP_478054.2:n.1969+12_1969+38dup
NM_058175.2:c.1969+12_1969+38dup	NP_478055.2:n.1969+12_1969+38dup
XM_011529451.1:c.1969+12_1969+38dup	XP_011527753.1:n.1969+12_1969+38dup
XM_011529452.1:c.1969+12_1969+38dup	XP_011527754.1:n.1969+12_1969+38dup
XR_937438.1:n.2046+12_2046+38dup
XR_937439.1:n.2046+12_2046+38dup
XR_937438.2:n.2053+12_2053+38dup
XR_937439.2:n.2053+12_2053+38dup
NM_001849.4:c.1969+12_1969+38dup MANE Select	NP_001840.3:n.1969+12_1969+38dup
NM_058174.3:c.1969+12_1969+38dup MANE Plus Clinical	NP_478054.2:n.1969+12_1969+38dup
NM_058175.3:c.1969+12_1969+38dup	NP_478055.2:n.1969+12_1969+38dup