Canonical Allele Identifier: CA410538785

Gene: COL6A2

Linked Data

• gnomAD v4: 21-46125551-A-G
• MyVariant Identifiers: chr21:g.47545465A>G (hg19) ; chr21:g.46125551A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125551A>G , CM000683.2:g.46125551A>G	GRCh38
NC_000021.8:g.47545465A>G , CM000683.1:g.47545465A>G	GRCh37
NC_000021.7:g.46369893A>G	NCBI36
NG_008675.1:g.32433A>G , LRG_476:g.32433A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1903A>G MANE Plus Clinical	ENSP00000380870.1:p.Lys635Glu
ENST00000300527.9:c.1903A>G MANE Select	ENSP00000300527.4:p.Lys635Glu
ENST00000409416.6:c.1903A>G	ENSP00000387115.1:p.Lys635Glu
ENST00000300527.8:c.1903A>G	ENSP00000300527.4:p.Lys635Glu
ENST00000310645.9:c.1903A>G	ENSP00000312529.5:p.Lys635Glu
ENST00000397763.5:c.1903A>G	ENSP00000380870.1:p.Lys635Glu
ENST00000409416.5:c.1903A>G	ENSP00000387115.1:p.Lys635Glu
ENST00000413758.1:c.574A>G	ENSP00000395751.1:p.Lys192Glu
NM_001849.3:c.1903A>G , LRG_476t1:c.1903A>G	NP_001840.3:p.Lys635Glu
NM_058174.2:c.1903A>G	NP_478054.2:p.Lys635Glu
NM_058175.2:c.1903A>G	NP_478055.2:p.Lys635Glu
XM_011529451.1:c.1903A>G	XP_011527753.1:p.Lys635Glu
XM_011529452.1:c.1903A>G	XP_011527754.1:p.Lys635Glu
XR_937438.1:n.1980A>G
XR_937439.1:n.1980A>G
XR_937438.2:n.1987A>G
XR_937439.2:n.1987A>G
NM_001849.4:c.1903A>G MANE Select	NP_001840.3:p.Lys635Glu
NM_058174.3:c.1903A>G MANE Plus Clinical	NP_478054.2:p.Lys635Glu
NM_058175.3:c.1903A>G	NP_478055.2:p.Lys635Glu