Canonical Allele Identifier: CA10072424

Gene: COL6A2

Linked Data

• dbSNP Id: rs373514837
• ExAC: 21:47545772 C / G
• gnomAD v2: 21-47545772-C-G
• gnomAD v4: 21-46125858-C-G
• MyVariant Identifiers: chr21:g.47545772C>G (hg19) ; chr21:g.46125858C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125858C>G , CM000683.2:g.46125858C>G	GRCh38
NC_000021.8:g.47545772C>G , CM000683.1:g.47545772C>G	GRCh37
NC_000021.7:g.46370200C>G	NCBI36
NG_008675.1:g.32740C>G , LRG_476:g.32740C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.2043C>G MANE Plus Clinical	ENSP00000380870.1:p.Ile681Met
ENST00000300527.9:c.2043C>G MANE Select	ENSP00000300527.4:p.Ile681Met
ENST00000409416.6:c.2043C>G	ENSP00000387115.1:p.Ile681Met
ENST00000300527.8:c.2043C>G	ENSP00000300527.4:p.Ile681Met
ENST00000310645.9:c.2043C>G	ENSP00000312529.5:p.Ile681Met
ENST00000397763.5:c.2043C>G	ENSP00000380870.1:p.Ile681Met
ENST00000409416.5:c.2043C>G	ENSP00000387115.1:p.Ile681Met
ENST00000413758.1:c.714C>G	ENSP00000395751.1:p.Ile238Met
NM_001849.3:c.2043C>G , LRG_476t1:c.2043C>G	NP_001840.3:p.Ile681Met
NM_058174.2:c.2043C>G	NP_478054.2:p.Ile681Met
NM_058175.2:c.2043C>G	NP_478055.2:p.Ile681Met
XM_011529451.1:c.2043C>G	XP_011527753.1:p.Ile681Met
XM_011529452.1:c.2043C>G	XP_011527754.1:p.Ile681Met
XR_937438.1:n.2120C>G
XR_937439.1:n.2120C>G
XR_937438.2:n.2127C>G
XR_937439.2:n.2127C>G
NM_001849.4:c.2043C>G MANE Select	NP_001840.3:p.Ile681Met
NM_058174.3:c.2043C>G MANE Plus Clinical	NP_478054.2:p.Ile681Met
NM_058175.3:c.2043C>G	NP_478055.2:p.Ile681Met