Canonical Allele Identifier: CA2591455059

Gene: COL6A2

Linked Data

• gnomAD v3: 21-46125368-GC-G
• gnomAD v4: 21-46125368-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125369del , CM000683.2:g.46125369del	GRCh38
NC_000021.8:g.47545283del , CM000683.1:g.47545283del	GRCh37
NC_000021.7:g.46369711del	NCBI36
NG_008675.1:g.32251del , LRG_476:g.32251del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1816+58del MANE Plus Clinical	ENSP00000380870.1:n.1816+58del
ENST00000300527.9:c.1816+58del MANE Select	ENSP00000300527.4:n.1816+58del
ENST00000409416.6:c.1816+58del	ENSP00000387115.1:n.1816+58del
ENST00000300527.8:c.1816+58del	ENSP00000300527.4:n.1816+58del
ENST00000310645.9:c.1816+58del	ENSP00000312529.5:n.1816+58del
ENST00000397763.5:c.1816+58del	ENSP00000380870.1:n.1816+58del
ENST00000409416.5:c.1816+58del	ENSP00000387115.1:n.1816+58del
ENST00000413758.1:c.440-48del	ENSP00000395751.1:n.440-48del
NM_001849.3:c.1816+58del , LRG_476t1:c.1816+58del	NP_001840.3:n.1816+58del
NM_058174.2:c.1816+58del	NP_478054.2:n.1816+58del
NM_058175.2:c.1816+58del	NP_478055.2:n.1816+58del
XM_011529451.1:c.1816+58del	XP_011527753.1:n.1816+58del
XM_011529452.1:c.1816+58del	XP_011527754.1:n.1816+58del
XR_937438.1:n.1894-96del
XR_937439.1:n.1894-96del
XR_937438.2:n.1901-96del
XR_937439.2:n.1901-96del
NM_001849.4:c.1816+58del MANE Select	NP_001840.3:n.1816+58del
NM_058174.3:c.1816+58del MANE Plus Clinical	NP_478054.2:n.1816+58del
NM_058175.3:c.1816+58del	NP_478055.2:n.1816+58del