Canonical Allele Identifier: CA10072016

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 340367
• ClinVar RCV Id: RCV000296822 ; RCV000332961 ; RCV000731787 ; RCV001082481
• dbSNP Id: rs373635709
• ExAC: 21:47542436 C / T
• gnomAD v2: 21-47542436-C-T
• gnomAD v3: 21-46122522-C-T
• gnomAD v4: 21-46122522-C-T
• MyVariant Identifiers: chr21:g.47542436C>T (hg19) ; chr21:g.46122522C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46122522C>T , CM000683.2:g.46122522C>T	GRCh38
NC_000021.8:g.47542436C>T , CM000683.1:g.47542436C>T	GRCh37
NC_000021.7:g.46366864C>T	NCBI36
NG_008675.1:g.29404C>T , LRG_476:g.29404C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000397763.6:c.1599C>T MANE Plus Clinical	ENSP00000380870.1:p.Arg533=
ENST00000300527.9:c.1599C>T MANE Select	ENSP00000300527.4:p.Arg533=
ENST00000409416.6:c.1599C>T	ENSP00000387115.1:p.Arg533=
ENST00000300527.8:c.1599C>T	ENSP00000300527.4:p.Arg533=
ENST00000310645.9:c.1599C>T	ENSP00000312529.5:p.Arg533=
ENST00000397763.5:c.1599C>T	ENSP00000380870.1:p.Arg533=
ENST00000409416.5:c.1599C>T	ENSP00000387115.1:p.Arg533=
ENST00000413758.1:c.222C>T	ENSP00000395751.1:p.Arg74=
NM_001849.3:c.1599C>T , LRG_476t1:c.1599C>T	NP_001840.3:p.Arg533=
NM_058174.2:c.1599C>T	NP_478054.2:p.Arg533=
NM_058175.2:c.1599C>T	NP_478055.2:p.Arg533=
XM_011529451.1:c.1599C>T	XP_011527753.1:p.Arg533=
XM_011529452.1:c.1599C>T	XP_011527754.1:p.Arg533=
XR_937438.1:n.1722C>T
XR_937439.1:n.1722C>T
XR_937438.2:n.1729C>T
XR_937439.2:n.1729C>T
NM_001849.4:c.1599C>T MANE Select	NP_001840.3:p.Arg533=
NM_058174.3:c.1599C>T MANE Plus Clinical	NP_478054.2:p.Arg533=
NM_058175.3:c.1599C>T	NP_478055.2:p.Arg533=