Canonical Allele Identifier: CA10072278

Gene: COL6A2

Linked Data

• dbSNP Id: rs779437776
• ExAC: 21:47545342 TCCCCGGTACC / T
• gnomAD v2: 21-47545342-TCCCCGGTACC-T
• gnomAD v4: 21-46125428-TCCCCGGTACC-T
• MyVariant Identifiers: chr21:g.47545343_47545352del (hg19) ; chr21:g.46125429_46125438del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125434_46125443del , CM000683.2:g.46125434_46125443del	GRCh38
NC_000021.8:g.47545348_47545357del , CM000683.1:g.47545348_47545357del	GRCh37
NC_000021.7:g.46369776_46369785del	NCBI36
NG_008675.1:g.32316_32325del , LRG_476:g.32316_32325del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1817-31_1817-22del MANE Plus Clinical	ENSP00000380870.1:n.1817-31_1817-22del
ENST00000300527.9:c.1817-31_1817-22del MANE Select	ENSP00000300527.4:n.1817-31_1817-22del
ENST00000409416.6:c.1817-31_1817-22del	ENSP00000387115.1:n.1817-31_1817-22del
ENST00000300527.8:c.1817-31_1817-22del	ENSP00000300527.4:n.1817-31_1817-22del
ENST00000310645.9:c.1817-31_1817-22del	ENSP00000312529.5:n.1817-31_1817-22del
ENST00000397763.5:c.1817-31_1817-22del	ENSP00000380870.1:n.1817-31_1817-22del
ENST00000409416.5:c.1817-31_1817-22del	ENSP00000387115.1:n.1817-31_1817-22del
ENST00000413758.1:c.457_466del	ENSP00000395751.1:p.Val153MetfsTer?
NM_001849.3:c.1817-31_1817-22del , LRG_476t1:c.1817-31_1817-22del	NP_001840.3:n.1817-31_1817-22del
NM_058174.2:c.1817-31_1817-22del	NP_478054.2:n.1817-31_1817-22del
NM_058175.2:c.1817-31_1817-22del	NP_478055.2:n.1817-31_1817-22del
XM_011529451.1:c.1817-31_1817-22del	XP_011527753.1:n.1817-31_1817-22del
XM_011529452.1:c.1817-31_1817-22del	XP_011527754.1:n.1817-31_1817-22del
XR_937438.1:n.1894-31_1894-22del
XR_937439.1:n.1894-31_1894-22del
XR_937438.2:n.1901-31_1901-22del
XR_937439.2:n.1901-31_1901-22del
NM_001849.4:c.1817-31_1817-22del MANE Select	NP_001840.3:n.1817-31_1817-22del
NM_058174.3:c.1817-31_1817-22del MANE Plus Clinical	NP_478054.2:n.1817-31_1817-22del
NM_058175.3:c.1817-31_1817-22del	NP_478055.2:n.1817-31_1817-22del