Canonical Allele Identifier: CA2654974004

Gene: COL6A2

Linked Data

• gnomAD v4: 21-46125779-TTGCAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125780_46125784del , CM000683.2:g.46125780_46125784del	GRCh38
NC_000021.8:g.47545694_47545698del , CM000683.1:g.47545694_47545698del	GRCh37
NC_000021.7:g.46370122_46370126del	NCBI36
NG_008675.1:g.32662_32666del , LRG_476:g.32662_32666del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1970-5_1970-1del MANE Plus Clinical	ENSP00000380870.1:n.1970-5_1970-1del
ENST00000300527.9:c.1970-5_1970-1del MANE Select	ENSP00000300527.4:n.1970-5_1970-1del
ENST00000409416.6:c.1970-5_1970-1del	ENSP00000387115.1:n.1970-5_1970-1del
ENST00000300527.8:c.1970-5_1970-1del	ENSP00000300527.4:n.1970-5_1970-1del
ENST00000310645.9:c.1970-5_1970-1del	ENSP00000312529.5:n.1970-5_1970-1del
ENST00000397763.5:c.1970-5_1970-1del	ENSP00000380870.1:n.1970-5_1970-1del
ENST00000409416.5:c.1970-5_1970-1del	ENSP00000387115.1:n.1970-5_1970-1del
ENST00000413758.1:c.641-5_641-1del	ENSP00000395751.1:n.641-5_641-1del
NM_001849.3:c.1970-5_1970-1del , LRG_476t1:c.1970-5_1970-1del	NP_001840.3:n.1970-5_1970-1del
NM_058174.2:c.1970-5_1970-1del	NP_478054.2:n.1970-5_1970-1del
NM_058175.2:c.1970-5_1970-1del	NP_478055.2:n.1970-5_1970-1del
XM_011529451.1:c.1970-5_1970-1del	XP_011527753.1:n.1970-5_1970-1del
XM_011529452.1:c.1970-5_1970-1del	XP_011527754.1:n.1970-5_1970-1del
XR_937438.1:n.2047-5_2047-1del
XR_937439.1:n.2047-5_2047-1del
XR_937438.2:n.2054-5_2054-1del
XR_937439.2:n.2054-5_2054-1del
NM_001849.4:c.1970-5_1970-1del MANE Select	NP_001840.3:n.1970-5_1970-1del
NM_058174.3:c.1970-5_1970-1del MANE Plus Clinical	NP_478054.2:n.1970-5_1970-1del
NM_058175.3:c.1970-5_1970-1del	NP_478055.2:n.1970-5_1970-1del