Canonical Allele Identifier: CA638497894

Gene: COL6A2

Linked Data

• dbSNP Id: rs1568940086
• gnomAD v2: 21-47545738-CCTTTGAGG-C
• gnomAD v3: 21-46125824-CCTTTGAGG-C
• gnomAD v4: 21-46125824-CCTTTGAGG-C
• MyVariant Identifiers: chr21:g.47545739_47545746del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125826_46125833del , CM000683.2:g.46125826_46125833del	GRCh38
NC_000021.8:g.47545740_47545747del , CM000683.1:g.47545740_47545747del	GRCh37
NC_000021.7:g.46370168_46370175del	NCBI36
NG_008675.1:g.32708_32715del , LRG_476:g.32708_32715del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.2011_2018del MANE Plus Clinical	ENSP00000380870.1:p.Phe671HisfsTer?
ENST00000300527.9:c.2011_2018del MANE Select	ENSP00000300527.4:p.Phe671HisfsTer?
ENST00000409416.6:c.2011_2018del	ENSP00000387115.1:p.Phe671HisfsTer?
ENST00000300527.8:c.2011_2018del	ENSP00000300527.4:p.Phe671HisfsTer?
ENST00000310645.9:c.2011_2018del	ENSP00000312529.5:p.Phe671HisfsTer?
ENST00000397763.5:c.2011_2018del	ENSP00000380870.1:p.Phe671HisfsTer?
ENST00000409416.5:c.2011_2018del	ENSP00000387115.1:p.Phe671HisfsTer?
ENST00000413758.1:c.682_689del	ENSP00000395751.1:p.Phe228HisfsTer?
NM_001849.3:c.2011_2018del , LRG_476t1:c.2011_2018del	NP_001840.3:p.Phe671HisfsTer?
NM_058174.2:c.2011_2018del	NP_478054.2:p.Phe671HisfsTer?
NM_058175.2:c.2011_2018del	NP_478055.2:p.Phe671HisfsTer?
XM_011529451.1:c.2011_2018del	XP_011527753.1:p.Phe671HisfsTer?
XM_011529452.1:c.2011_2018del	XP_011527754.1:p.Phe671HisfsTer?
XR_937438.1:n.2088_2095del
XR_937439.1:n.2088_2095del
XR_937438.2:n.2095_2102del
XR_937439.2:n.2095_2102del
NM_001849.4:c.2011_2018del MANE Select	NP_001840.3:p.Phe671HisfsTer?
NM_058174.3:c.2011_2018del MANE Plus Clinical	NP_478054.2:p.Phe671HisfsTer?
NM_058175.3:c.2011_2018del	NP_478055.2:p.Phe671HisfsTer?