Canonical Allele Identifier: CA10071997

Gene: COL6A2

Linked Data

• dbSNP Id: rs755708014
• ExAC: 21:47542375 AGGCTGAGTCACCCT / A
• gnomAD v2: 21-47542375-AGGCTGAGTCACCCT-A
• gnomAD v4: 21-46122461-AGGCTGAGTCACCCT-A
• MyVariant Identifiers: chr21:g.47542376_47542389del (hg19) ; chr21:g.46122462_46122475del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46122466_46122479del , CM000683.2:g.46122466_46122479del	GRCh38
NC_000021.8:g.47542380_47542393del , CM000683.1:g.47542380_47542393del	GRCh37
NC_000021.7:g.46366808_46366821del	NCBI36
NG_008675.1:g.29348_29361del , LRG_476:g.29348_29361del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1573-30_1573-17del MANE Plus Clinical	ENSP00000380870.1:n.1573-30_1573-17del
ENST00000300527.9:c.1573-30_1573-17del MANE Select	ENSP00000300527.4:n.1573-30_1573-17del
ENST00000409416.6:c.1573-30_1573-17del	ENSP00000387115.1:n.1573-30_1573-17del
ENST00000300527.8:c.1573-30_1573-17del	ENSP00000300527.4:n.1573-30_1573-17del
ENST00000310645.9:c.1573-30_1573-17del	ENSP00000312529.5:n.1573-30_1573-17del
ENST00000397763.5:c.1573-30_1573-17del	ENSP00000380870.1:n.1573-30_1573-17del
ENST00000409416.5:c.1573-30_1573-17del	ENSP00000387115.1:n.1573-30_1573-17del
ENST00000413758.1:c.196-30_196-17del	ENSP00000395751.1:n.196-30_196-17del
NM_001849.3:c.1573-30_1573-17del , LRG_476t1:c.1573-30_1573-17del	NP_001840.3:n.1573-30_1573-17del
NM_058174.2:c.1573-30_1573-17del	NP_478054.2:n.1573-30_1573-17del
NM_058175.2:c.1573-30_1573-17del	NP_478055.2:n.1573-30_1573-17del
XM_011529451.1:c.1573-30_1573-17del	XP_011527753.1:n.1573-30_1573-17del
XM_011529452.1:c.1573-30_1573-17del	XP_011527754.1:n.1573-30_1573-17del
XR_937438.1:n.1696-30_1696-17del
XR_937439.1:n.1696-30_1696-17del
XR_937438.2:n.1703-30_1703-17del
XR_937439.2:n.1703-30_1703-17del
NM_001849.4:c.1573-30_1573-17del MANE Select	NP_001840.3:n.1573-30_1573-17del
NM_058174.3:c.1573-30_1573-17del MANE Plus Clinical	NP_478054.2:n.1573-30_1573-17del
NM_058175.3:c.1573-30_1573-17del	NP_478055.2:n.1573-30_1573-17del