Canonical Allele Identifier: CA410532307

Gene: COL6A2

Linked Data

• MyVariant Identifiers: chr21:g.47541525G>C (hg19) ; chr21:g.46121611G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46121611G>C , CM000683.2:g.46121611G>C	GRCh38
NC_000021.8:g.47541525G>C , CM000683.1:g.47541525G>C	GRCh37
NC_000021.7:g.46365953G>C	NCBI36
NG_008675.1:g.28493G>C , LRG_476:g.28493G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1514G>C MANE Plus Clinical	ENSP00000380870.1:p.Gly505Ala
ENST00000300527.9:c.1514G>C MANE Select	ENSP00000300527.4:p.Gly505Ala
ENST00000409416.6:c.1514G>C	ENSP00000387115.1:p.Gly505Ala
ENST00000300527.8:c.1514G>C	ENSP00000300527.4:p.Gly505Ala
ENST00000310645.9:c.1514G>C	ENSP00000312529.5:p.Gly505Ala
ENST00000397763.5:c.1514G>C	ENSP00000380870.1:p.Gly505Ala
ENST00000409416.5:c.1514G>C	ENSP00000387115.1:p.Gly505Ala
ENST00000413758.1:c.137G>C	ENSP00000395751.1:p.Gly46Ala
NM_001849.3:c.1514G>C , LRG_476t1:c.1514G>C	NP_001840.3:p.Gly505Ala
NM_058174.2:c.1514G>C	NP_478054.2:p.Gly505Ala
NM_058175.2:c.1514G>C	NP_478055.2:p.Gly505Ala
XM_011529451.1:c.1514G>C	XP_011527753.1:p.Gly505Ala
XM_011529452.1:c.1514G>C	XP_011527754.1:p.Gly505Ala
XR_937438.1:n.1637G>C
XR_937439.1:n.1637G>C
XR_937438.2:n.1644G>C
XR_937439.2:n.1644G>C
NM_001849.4:c.1514G>C MANE Select	NP_001840.3:p.Gly505Ala
NM_058174.3:c.1514G>C MANE Plus Clinical	NP_478054.2:p.Gly505Ala
NM_058175.3:c.1514G>C	NP_478055.2:p.Gly505Ala