Canonical Allele Identifier: CA10072294
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1371162
ClinVar RCV Id: RCV001864461
dbSNP Id: rs759572010

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46125458_46125459insA , CM000683.2:g.46125458_46125459insA GRCh38
NC_000021.8:g.47545372_47545373insA , CM000683.1:g.47545372_47545373insA GRCh37
NC_000021.7:g.46369800_46369801insA NCBI36
NG_008675.1:g.32340_32341insA , LRG_476:g.32340_32341insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000397763.6:c.1817-7_1817-6insA MANE Plus Clinical ENSP00000380870.1:n.1817-7_1817-6insA
ENST00000300527.9:c.1817-7_1817-6insA MANE Select ENSP00000300527.4:n.1817-7_1817-6insA
ENST00000409416.6:c.1817-7_1817-6insA ENSP00000387115.1:n.1817-7_1817-6insA
ENST00000300527.8:c.1817-7_1817-6insA ENSP00000300527.4:n.1817-7_1817-6insA
ENST00000310645.9:c.1817-7_1817-6insA ENSP00000312529.5:n.1817-7_1817-6insA
ENST00000397763.5:c.1817-7_1817-6insA ENSP00000380870.1:n.1817-7_1817-6insA
ENST00000409416.5:c.1817-7_1817-6insA ENSP00000387115.1:n.1817-7_1817-6insA
ENST00000413758.1:c.481_482insA ENSP00000395751.1:p.Pro161HisfsTer5
NM_001849.3:c.1817-7_1817-6insA , LRG_476t1:c.1817-7_1817-6insA NP_001840.3:n.1817-7_1817-6insA
NM_058174.2:c.1817-7_1817-6insA NP_478054.2:n.1817-7_1817-6insA
NM_058175.2:c.1817-7_1817-6insA NP_478055.2:n.1817-7_1817-6insA
XM_011529451.1:c.1817-7_1817-6insA XP_011527753.1:n.1817-7_1817-6insA
XM_011529452.1:c.1817-7_1817-6insA XP_011527754.1:n.1817-7_1817-6insA
XR_937438.1:n.1894-7_1894-6insA
XR_937439.1:n.1894-7_1894-6insA
XR_937438.2:n.1901-7_1901-6insA
XR_937439.2:n.1901-7_1901-6insA
NM_001849.4:c.1817-7_1817-6insA MANE Select NP_001840.3:n.1817-7_1817-6insA
NM_058174.3:c.1817-7_1817-6insA MANE Plus Clinical NP_478054.2:n.1817-7_1817-6insA
NM_058175.3:c.1817-7_1817-6insA NP_478055.2:n.1817-7_1817-6insA