Canonical Allele Identifier: CA10072061

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 283115
• ClinVar RCV Id: RCV000321947 ; RCV001451998
• dbSNP Id: rs555312732
• ExAC: 21:47542782 G / A
• gnomAD v2: 21-47542782-G-A
• gnomAD v3: 21-46122868-G-A
• gnomAD v4: 21-46122868-G-A
• MyVariant Identifiers: chr21:g.47542782G>A (hg19) ; chr21:g.46122868G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46122868G>A , CM000683.2:g.46122868G>A	GRCh38
NC_000021.8:g.47542782G>A , CM000683.1:g.47542782G>A	GRCh37
NC_000021.7:g.46367210G>A	NCBI36
NG_008675.1:g.29750G>A , LRG_476:g.29750G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1609-7G>A MANE Plus Clinical	ENSP00000380870.1:n.1609-7G>A
ENST00000300527.9:c.1609-7G>A MANE Select	ENSP00000300527.4:n.1609-7G>A
ENST00000409416.6:c.1609-7G>A	ENSP00000387115.1:n.1609-7G>A
ENST00000300527.8:c.1609-7G>A	ENSP00000300527.4:n.1609-7G>A
ENST00000310645.9:c.1609-7G>A	ENSP00000312529.5:n.1609-7G>A
ENST00000397763.5:c.1609-7G>A	ENSP00000380870.1:n.1609-7G>A
ENST00000409416.5:c.1609-7G>A	ENSP00000387115.1:n.1609-7G>A
ENST00000413758.1:c.232-7G>A	ENSP00000395751.1:n.232-7G>A
NM_001849.3:c.1609-7G>A , LRG_476t1:c.1609-7G>A	NP_001840.3:n.1609-7G>A
NM_058174.2:c.1609-7G>A	NP_478054.2:n.1609-7G>A
NM_058175.2:c.1609-7G>A	NP_478055.2:n.1609-7G>A
XM_011529451.1:c.1609-7G>A	XP_011527753.1:n.1609-7G>A
XM_011529452.1:c.1609-7G>A	XP_011527754.1:n.1609-7G>A
XR_937438.1:n.1732-7G>A
XR_937439.1:n.1732-7G>A
XR_937438.2:n.1739-7G>A
XR_937439.2:n.1739-7G>A
NM_001849.4:c.1609-7G>A MANE Select	NP_001840.3:n.1609-7G>A
NM_058174.3:c.1609-7G>A MANE Plus Clinical	NP_478054.2:n.1609-7G>A
NM_058175.3:c.1609-7G>A	NP_478055.2:n.1609-7G>A