Canonical Allele Identifier: CA638497867
Gene: COL6A2 HGNC NCBI

Linked Data

dbSNP Id: rs1004649901
MyVariant Identifiers: chr21:g.47545515del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46125604del , CM000683.2:g.46125604del GRCh38
NC_000021.8:g.47545518del , CM000683.1:g.47545518del GRCh37
NC_000021.7:g.46369946del NCBI36
NG_008675.1:g.32486del , LRG_476:g.32486del

Transcript Alleles

HGVS Amino-acid Change
ENST00000397763.6:c.1956del MANE Plus Clinical ENSP00000380870.1:p.Lys653SerfsTer?
ENST00000300527.9:c.1956del MANE Select ENSP00000300527.4:p.Lys653SerfsTer?
ENST00000409416.6:c.1956del ENSP00000387115.1:p.Lys653SerfsTer?
ENST00000300527.8:c.1956del ENSP00000300527.4:p.Lys653SerfsTer?
ENST00000310645.9:c.1956del ENSP00000312529.5:p.Lys653SerfsTer?
ENST00000397763.5:c.1956del ENSP00000380870.1:p.Lys653SerfsTer?
ENST00000409416.5:c.1956del ENSP00000387115.1:p.Lys653SerfsTer?
ENST00000413758.1:c.627del ENSP00000395751.1:p.Lys210SerfsTer?
NM_001849.3:c.1956del , LRG_476t1:c.1956del NP_001840.3:p.Lys653SerfsTer?
NM_058174.2:c.1956del NP_478054.2:p.Lys653SerfsTer?
NM_058175.2:c.1956del NP_478055.2:p.Lys653SerfsTer?
XM_011529451.1:c.1956del XP_011527753.1:p.Lys653SerfsTer?
XM_011529452.1:c.1956del XP_011527754.1:p.Lys653SerfsTer?
XR_937438.1:n.2033del
XR_937439.1:n.2033del
XR_937438.2:n.2040del
XR_937439.2:n.2040del
NM_001849.4:c.1956del MANE Select NP_001840.3:p.Lys653SerfsTer?
NM_058174.3:c.1956del MANE Plus Clinical NP_478054.2:p.Lys653SerfsTer?
NM_058175.3:c.1956del NP_478055.2:p.Lys653SerfsTer?