Canonical Allele Identifier: CA1022869608

Gene: COL6A2

Linked Data

• dbSNP Id: rs2078644612
• gnomAD v3: 21-46125356-G-GAGGGCGGGAGTGCAGC
• gnomAD v4: 21-46125356-G-GAGGGCGGGAGTGCAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125362_46125377dup , CM000683.2:g.46125362_46125377dup	GRCh38
NC_000021.8:g.47545276_47545291dup , CM000683.1:g.47545276_47545291dup	GRCh37
NC_000021.7:g.46369704_46369719dup	NCBI36
NG_008675.1:g.32244_32259dup , LRG_476:g.32244_32259dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1816+51_1816+66dup MANE Plus Clinical	ENSP00000380870.1:n.1816+51_1816+66dup
ENST00000300527.9:c.1816+51_1816+66dup MANE Select	ENSP00000300527.4:n.1816+51_1816+66dup
ENST00000409416.6:c.1816+51_1816+66dup	ENSP00000387115.1:n.1816+51_1816+66dup
ENST00000300527.8:c.1816+51_1816+66dup	ENSP00000300527.4:n.1816+51_1816+66dup
ENST00000310645.9:c.1816+51_1816+66dup	ENSP00000312529.5:n.1816+51_1816+66dup
ENST00000397763.5:c.1816+51_1816+66dup	ENSP00000380870.1:n.1816+51_1816+66dup
ENST00000409416.5:c.1816+51_1816+66dup	ENSP00000387115.1:n.1816+51_1816+66dup
ENST00000413758.1:c.439+51_440-40dup	ENSP00000395751.1:n.439+51_440-40dup
NM_001849.3:c.1816+51_1816+66dup , LRG_476t1:c.1816+51_1816+66dup	NP_001840.3:n.1816+51_1816+66dup
NM_058174.2:c.1816+51_1816+66dup	NP_478054.2:n.1816+51_1816+66dup
NM_058175.2:c.1816+51_1816+66dup	NP_478055.2:n.1816+51_1816+66dup
XM_011529451.1:c.1816+51_1816+66dup	XP_011527753.1:n.1816+51_1816+66dup
XM_011529452.1:c.1816+51_1816+66dup	XP_011527754.1:n.1816+51_1816+66dup
XR_937438.1:n.1894-103_1894-88dup
XR_937439.1:n.1894-103_1894-88dup
XR_937438.2:n.1901-103_1901-88dup
XR_937439.2:n.1901-103_1901-88dup
NM_001849.4:c.1816+51_1816+66dup MANE Select	NP_001840.3:n.1816+51_1816+66dup
NM_058174.3:c.1816+51_1816+66dup MANE Plus Clinical	NP_478054.2:n.1816+51_1816+66dup
NM_058175.3:c.1816+51_1816+66dup	NP_478055.2:n.1816+51_1816+66dup