Canonical Allele Identifier: CA042778

Gene: COL6A2

Linked Data

• PubMed: PMID:18852439 ; PMID:19949035

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.[46131981G>A;46132019C>T] , CM000683.2:g.[46131981G>A;46132019C>T]	GRCh38
NC_000021.8:g.[47551895G>A;47551933C>T] , CM000683.1:g.[47551895G>A;47551933C>T]	GRCh37
NC_000021.7:g.[46376323G>A;46376361C>T]	NCBI36
NG_008675.1:g.[38863G>A;38901C>T] , LRG_476:g.[38863G>A;38901C>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300527.9:c.[2489G>A;2527C>T] MANE Select	ENSP00000300527.4:p.[Arg830Gln;Arg843Trp]
ENST00000300527.8:c.[2489G>A;2527C>T]	ENSP00000300527.4:p.[Arg830Gln;Arg843Trp]
NM_001849.3:c.[2489G>A;2527C>T] , LRG_476t1:c.[2489G>A;2527C>T]	NP_001840.3:p.[Arg830Gln;Arg843Trp]
XM_011529451.1:c.[2489G>A;2527C>T]	XP_011527753.1:p.[Arg830Gln;Arg843Trp]
XM_011529452.1:c.[2489G>A;2527C>T]	XP_011527754.1:p.[Arg830Gln;Arg843Trp]
XR_937438.1:n.[2566G>A;2604C>T]
XR_937438.2:n.[2573G>A;2611C>T]
NM_001849.4:c.[2489G>A;2527C>T] MANE Select	NP_001840.3:p.[Arg830Gln;Arg843Trp]