Canonical Allele Identifier: CA749809087

Gene: COL6A2

Linked Data

• dbSNP Id: rs1423327034
• gnomAD v4: 21-46122613-C-T
• MyVariant Identifiers: chr21:g.47542527C>T (hg19) ; chr21:g.46122613C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46122613C>T , CM000683.2:g.46122613C>T	GRCh38
NC_000021.8:g.47542527C>T , CM000683.1:g.47542527C>T	GRCh37
NC_000021.7:g.46366955C>T	NCBI36
NG_008675.1:g.29495C>T , LRG_476:g.29495C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1608+82C>T MANE Plus Clinical	ENSP00000380870.1:n.1608+82C>T
ENST00000300527.9:c.1608+82C>T MANE Select	ENSP00000300527.4:n.1608+82C>T
ENST00000409416.6:c.1608+82C>T	ENSP00000387115.1:n.1608+82C>T
ENST00000300527.8:c.1608+82C>T	ENSP00000300527.4:n.1608+82C>T
ENST00000310645.9:c.1608+82C>T	ENSP00000312529.5:n.1608+82C>T
ENST00000397763.5:c.1608+82C>T	ENSP00000380870.1:n.1608+82C>T
ENST00000409416.5:c.1608+82C>T	ENSP00000387115.1:n.1608+82C>T
ENST00000413758.1:c.231+82C>T	ENSP00000395751.1:n.231+82C>T
NM_001849.3:c.1608+82C>T , LRG_476t1:c.1608+82C>T	NP_001840.3:n.1608+82C>T
NM_058174.2:c.1608+82C>T	NP_478054.2:n.1608+82C>T
NM_058175.2:c.1608+82C>T	NP_478055.2:n.1608+82C>T
XM_011529451.1:c.1608+82C>T	XP_011527753.1:n.1608+82C>T
XM_011529452.1:c.1608+82C>T	XP_011527754.1:n.1608+82C>T
XR_937438.1:n.1731+82C>T
XR_937439.1:n.1731+82C>T
XR_937438.2:n.1738+82C>T
XR_937439.2:n.1738+82C>T
NM_001849.4:c.1608+82C>T MANE Select	NP_001840.3:n.1608+82C>T
NM_058174.3:c.1608+82C>T MANE Plus Clinical	NP_478054.2:n.1608+82C>T
NM_058175.3:c.1608+82C>T	NP_478055.2:n.1608+82C>T