Canonical Allele Identifier: CA2654968460

Gene: COL6A2

Linked Data

• gnomAD v4: 21-46113783-GAAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46113785_46113787del , CM000683.2:g.46113785_46113787del	GRCh38
NC_000021.8:g.47533699_47533701del , CM000683.1:g.47533699_47533701del	GRCh37
NC_000021.7:g.46358127_46358129del	NCBI36
NG_008675.1:g.20667_20669del , LRG_476:g.20667_20669del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.736-223_736-221del MANE Plus Clinical	ENSP00000380870.1:n.736-223_736-221del
ENST00000300527.9:c.736-223_736-221del MANE Select	ENSP00000300527.4:n.736-223_736-221del
ENST00000409416.6:c.736-223_736-221del	ENSP00000387115.1:n.736-223_736-221del
ENST00000300527.8:c.736-223_736-221del	ENSP00000300527.4:n.736-223_736-221del
ENST00000310645.9:c.736-223_736-221del	ENSP00000312529.5:n.736-223_736-221del
ENST00000397763.5:c.736-223_736-221del	ENSP00000380870.1:n.736-223_736-221del
ENST00000409416.5:c.736-223_736-221del	ENSP00000387115.1:n.736-223_736-221del
ENST00000485591.1:n.169_171del
NM_001849.3:c.736-223_736-221del , LRG_476t1:c.736-223_736-221del	NP_001840.3:n.736-223_736-221del
NM_058174.2:c.736-223_736-221del	NP_478054.2:n.736-223_736-221del
NM_058175.2:c.736-223_736-221del	NP_478055.2:n.736-223_736-221del
XM_011529451.1:c.736-223_736-221del	XP_011527753.1:n.736-223_736-221del
XM_011529452.1:c.736-223_736-221del	XP_011527754.1:n.736-223_736-221del
XR_937438.1:n.859-223_859-221del
XR_937439.1:n.859-223_859-221del
XR_937438.2:n.866-223_866-221del
XR_937439.2:n.866-223_866-221del
NM_001849.4:c.736-223_736-221del MANE Select	NP_001840.3:n.736-223_736-221del
NM_058174.3:c.736-223_736-221del MANE Plus Clinical	NP_478054.2:n.736-223_736-221del
NM_058175.3:c.736-223_736-221del	NP_478055.2:n.736-223_736-221del