Canonical Allele Identifier: CA10072005

Gene: COL6A2

Linked Data

• dbSNP Id: rs749807501
• ExAC: 21:47542405 C / CCT
• gnomAD v3: 21-46122491-C-CCT
• gnomAD v4: 21-46122491-C-CCT
• MyVariant Identifiers: chr21:g.47542405_47542406insCT (hg19) ; chr21:g.46122491_46122492insCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46122491_46122492insCT , CM000683.2:g.46122491_46122492insCT	GRCh38
NC_000021.8:g.47542405_47542406insCT , CM000683.1:g.47542405_47542406insCT	GRCh37
NC_000021.7:g.46366833_46366834insCT	NCBI36
NG_008675.1:g.29373_29374insCT , LRG_476:g.29373_29374insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1573-5_1573-4insCT MANE Plus Clinical	ENSP00000380870.1:n.1573-5_1573-4insCT
ENST00000300527.9:c.1573-5_1573-4insCT MANE Select	ENSP00000300527.4:n.1573-5_1573-4insCT
ENST00000409416.6:c.1573-5_1573-4insCT	ENSP00000387115.1:n.1573-5_1573-4insCT
ENST00000300527.8:c.1573-5_1573-4insCT	ENSP00000300527.4:n.1573-5_1573-4insCT
ENST00000310645.9:c.1573-5_1573-4insCT	ENSP00000312529.5:n.1573-5_1573-4insCT
ENST00000397763.5:c.1573-5_1573-4insCT	ENSP00000380870.1:n.1573-5_1573-4insCT
ENST00000409416.5:c.1573-5_1573-4insCT	ENSP00000387115.1:n.1573-5_1573-4insCT
ENST00000413758.1:c.196-5_196-4insCT	ENSP00000395751.1:n.196-5_196-4insCT
NM_001849.3:c.1573-5_1573-4insCT , LRG_476t1:c.1573-5_1573-4insCT	NP_001840.3:n.1573-5_1573-4insCT
NM_058174.2:c.1573-5_1573-4insCT	NP_478054.2:n.1573-5_1573-4insCT
NM_058175.2:c.1573-5_1573-4insCT	NP_478055.2:n.1573-5_1573-4insCT
XM_011529451.1:c.1573-5_1573-4insCT	XP_011527753.1:n.1573-5_1573-4insCT
XM_011529452.1:c.1573-5_1573-4insCT	XP_011527754.1:n.1573-5_1573-4insCT
XR_937438.1:n.1696-5_1696-4insCT
XR_937439.1:n.1696-5_1696-4insCT
XR_937438.2:n.1703-5_1703-4insCT
XR_937439.2:n.1703-5_1703-4insCT
NM_001849.4:c.1573-5_1573-4insCT MANE Select	NP_001840.3:n.1573-5_1573-4insCT
NM_058174.3:c.1573-5_1573-4insCT MANE Plus Clinical	NP_478054.2:n.1573-5_1573-4insCT
NM_058175.3:c.1573-5_1573-4insCT	NP_478055.2:n.1573-5_1573-4insCT