Canonical Allele Identifier: CA638180904

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46111447C>G , CM000683.2:g.46111447C>G	GRCh38
NC_000021.8:g.47531361C>G , CM000683.1:g.47531361C>G	GRCh37
NC_000021.7:g.46355789C>G	NCBI36
NG_008675.1:g.18329C>G , LRG_476:g.18329C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001849.4:c.-27-3C>G MANE Select	NP_001840.3:n.-27-3C>G
ENST00000300527.9:c.-27-3C>G MANE Select	ENSP00000300527.4:n.-27-3C>G
NM_058174.3:c.-27-3C>G MANE Plus Clinical	NP_478054.2:n.-27-3C>G
ENST00000397763.6:c.-27-3C>G MANE Plus Clinical	ENSP00000380870.1:n.-27-3C>G
NM_001849.3:c.-27-3C>G , LRG_476t1:c.-27-3C>G	NP_001840.3:n.-27-3C>G
NM_058174.2:c.-27-3C>G	NP_478054.2:n.-27-3C>G
NM_058175.2:c.-27-3C>G	NP_478055.2:n.-27-3C>G
NM_058175.3:c.-27-3C>G	NP_478055.2:n.-27-3C>G
ENST00000300527.8:c.-27-3C>G	ENSP00000300527.4:n.-27-3C>G
ENST00000310645.9:c.-27-3C>G	ENSP00000312529.5:n.-27-3C>G
ENST00000409416.5:c.-30C>G	ENSP00000387115.1:n.-30C>G
ENST00000436769.5:c.-27-3C>G	ENSP00000390418.1:n.-27-3C>G
XM_011529451.1:c.-27-3C>G	XP_011527753.1:n.-27-3C>G
XM_011529452.1:c.-27-3C>G	XP_011527754.1:n.-27-3C>G
XR_937438.1:n.97-3C>G
XR_937438.2:n.104-3C>G
XR_937439.1:n.97-3C>G
XR_937439.2:n.104-3C>G