Allele Registry

Canonical Allele Identifier: CA10072501

Gene: COL6A2 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr21:g.46126099_46126100del

GRCh37 chr21:g.47546013_47546014del

Linked Data - Sequence & Population

gnomAD v2:

21:47546012 CAT / C

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000342084

ClinVar Variation:

289901

dbSNP:

778129335

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46126099_46126100del , CM000683.2:g.46126099_46126100del	GRCh38
NC_000021.8:g.47546013_47546014del , CM000683.1:g.47546013_47546014del	GRCh37
NC_000021.7:g.46370441_46370442del	NCBI36
NG_008675.1:g.32981_32982del , LRG_476:g.32981_32982del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.2284_2285del MANE Plus Clinical	ENSP00000380870.1:p.Met762ValfsTer8
ENST00000300527.9:c.2284_2285del MANE Select	ENSP00000300527.4:p.Met762ValfsTer8
ENST00000409416.6:c.2284_2285del	ENSP00000387115.1:p.Met762ValfsTer8
ENST00000300527.8:c.2284_2285del	ENSP00000300527.4:p.Met762ValfsTer8
ENST00000310645.9:c.2284_2285del	ENSP00000312529.5:p.Met762ValfsTer8
ENST00000397763.5:c.2284_2285del	ENSP00000380870.1:p.Met762ValfsTer8
ENST00000409416.5:c.2284_2285del	ENSP00000387115.1:p.Met762ValfsTer8
NM_001849.3:c.2284_2285del , LRG_476t1:c.2284_2285del	NP_001840.3:p.Met762ValfsTer8
NM_058174.2:c.2284_2285del	NP_478054.2:p.Met762ValfsTer8
NM_058175.2:c.2284_2285del	NP_478055.2:p.Met762ValfsTer8
XM_011529451.1:c.2284_2285del	XP_011527753.1:p.Met762ValfsTer8
XM_011529452.1:c.2284_2285del	XP_011527754.1:p.Met762ValfsTer8
XR_937438.1:n.2361_2362del
XR_937439.1:n.2361_2362del
XR_937438.2:n.2368_2369del
XR_937439.2:n.2368_2369del
NM_001849.4:c.2284_2285del MANE Select	NP_001840.3:p.Met762ValfsTer8
NM_058174.3:c.2284_2285del MANE Plus Clinical	NP_478054.2:p.Met762ValfsTer8
NM_058175.3:c.2284_2285del	NP_478055.2:p.Met762ValfsTer8

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