Canonical Allele Identifier: CA638497857

Gene: COL6A2

Linked Data

• dbSNP Id: rs768632418
• gnomAD v2: 21-47545374-C-CA
• gnomAD v4: 21-46125460-C-CA
• MyVariant Identifiers: chr21:g.47545374_47545375insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125460_46125461insA , CM000683.2:g.46125460_46125461insA	GRCh38
NC_000021.8:g.47545374_47545375insA , CM000683.1:g.47545374_47545375insA	GRCh37
NC_000021.7:g.46369802_46369803insA	NCBI36
NG_008675.1:g.32342_32343insA , LRG_476:g.32342_32343insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1817-5_1817-4insA MANE Plus Clinical	ENSP00000380870.1:n.1817-5_1817-4insA
ENST00000300527.9:c.1817-5_1817-4insA MANE Select	ENSP00000300527.4:n.1817-5_1817-4insA
ENST00000409416.6:c.1817-5_1817-4insA	ENSP00000387115.1:n.1817-5_1817-4insA
ENST00000300527.8:c.1817-5_1817-4insA	ENSP00000300527.4:n.1817-5_1817-4insA
ENST00000310645.9:c.1817-5_1817-4insA	ENSP00000312529.5:n.1817-5_1817-4insA
ENST00000397763.5:c.1817-5_1817-4insA	ENSP00000380870.1:n.1817-5_1817-4insA
ENST00000409416.5:c.1817-5_1817-4insA	ENSP00000387115.1:n.1817-5_1817-4insA
ENST00000413758.1:c.483_484insA	ENSP00000395751.1:p.Pro162ThrfsTer4
NM_001849.3:c.1817-5_1817-4insA , LRG_476t1:c.1817-5_1817-4insA	NP_001840.3:n.1817-5_1817-4insA
NM_058174.2:c.1817-5_1817-4insA	NP_478054.2:n.1817-5_1817-4insA
NM_058175.2:c.1817-5_1817-4insA	NP_478055.2:n.1817-5_1817-4insA
XM_011529451.1:c.1817-5_1817-4insA	XP_011527753.1:n.1817-5_1817-4insA
XM_011529452.1:c.1817-5_1817-4insA	XP_011527754.1:n.1817-5_1817-4insA
XR_937438.1:n.1894-5_1894-4insA
XR_937439.1:n.1894-5_1894-4insA
XR_937438.2:n.1901-5_1901-4insA
XR_937439.2:n.1901-5_1901-4insA
NM_001849.4:c.1817-5_1817-4insA MANE Select	NP_001840.3:n.1817-5_1817-4insA
NM_058174.3:c.1817-5_1817-4insA MANE Plus Clinical	NP_478054.2:n.1817-5_1817-4insA
NM_058175.3:c.1817-5_1817-4insA	NP_478055.2:n.1817-5_1817-4insA