Canonical Allele Identifier: CA321968116

Gene: COL6A2

Linked Data

• dbSNP Id: rs779074041
• gnomAD v4: 21-46122604-GCCCA-G
• MyVariant Identifiers: chr21:g.47542519_47542522del (hg19) ; chr21:g.46122605_46122608del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46122607_46122610del , CM000683.2:g.46122607_46122610del	GRCh38
NC_000021.8:g.47542521_47542524del , CM000683.1:g.47542521_47542524del	GRCh37
NC_000021.7:g.46366949_46366952del	NCBI36
NG_008675.1:g.29489_29492del , LRG_476:g.29489_29492del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1608+76_1608+79del MANE Plus Clinical	ENSP00000380870.1:n.1608+76_1608+79del
ENST00000300527.9:c.1608+76_1608+79del MANE Select	ENSP00000300527.4:n.1608+76_1608+79del
ENST00000409416.6:c.1608+76_1608+79del	ENSP00000387115.1:n.1608+76_1608+79del
ENST00000300527.8:c.1608+76_1608+79del	ENSP00000300527.4:n.1608+76_1608+79del
ENST00000310645.9:c.1608+76_1608+79del	ENSP00000312529.5:n.1608+76_1608+79del
ENST00000397763.5:c.1608+76_1608+79del	ENSP00000380870.1:n.1608+76_1608+79del
ENST00000409416.5:c.1608+76_1608+79del	ENSP00000387115.1:n.1608+76_1608+79del
ENST00000413758.1:c.231+76_231+79del	ENSP00000395751.1:n.231+76_231+79del
NM_001849.3:c.1608+76_1608+79del , LRG_476t1:c.1608+76_1608+79del	NP_001840.3:n.1608+76_1608+79del
NM_058174.2:c.1608+76_1608+79del	NP_478054.2:n.1608+76_1608+79del
NM_058175.2:c.1608+76_1608+79del	NP_478055.2:n.1608+76_1608+79del
XM_011529451.1:c.1608+76_1608+79del	XP_011527753.1:n.1608+76_1608+79del
XM_011529452.1:c.1608+76_1608+79del	XP_011527754.1:n.1608+76_1608+79del
XR_937438.1:n.1731+76_1731+79del
XR_937439.1:n.1731+76_1731+79del
XR_937438.2:n.1738+76_1738+79del
XR_937439.2:n.1738+76_1738+79del
NM_001849.4:c.1608+76_1608+79del MANE Select	NP_001840.3:n.1608+76_1608+79del
NM_058174.3:c.1608+76_1608+79del MANE Plus Clinical	NP_478054.2:n.1608+76_1608+79del
NM_058175.3:c.1608+76_1608+79del	NP_478055.2:n.1608+76_1608+79del