Canonical Allele Identifier: CA10072251
Gene: COL6A2 HGNC NCBI

Linked Data

dbSNP Id: rs754250503

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46125384_46125394dup , CM000683.2:g.46125384_46125394dup GRCh38
NC_000021.8:g.47545298_47545308dup , CM000683.1:g.47545298_47545308dup GRCh37
NC_000021.7:g.46369726_46369736dup NCBI36
NG_008675.1:g.32266_32276dup , LRG_476:g.32266_32276dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000397763.6:c.1816+73_1817-71dup MANE Plus Clinical ENSP00000380870.1:n.1816+73_1817-71dup
ENST00000300527.9:c.1816+73_1817-71dup MANE Select ENSP00000300527.4:n.1816+73_1817-71dup
ENST00000409416.6:c.1816+73_1817-71dup ENSP00000387115.1:n.1816+73_1817-71dup
ENST00000300527.8:c.1816+73_1817-71dup ENSP00000300527.4:n.1816+73_1817-71dup
ENST00000310645.9:c.1816+73_1817-71dup ENSP00000312529.5:n.1816+73_1817-71dup
ENST00000397763.5:c.1816+73_1817-71dup ENSP00000380870.1:n.1816+73_1817-71dup
ENST00000409416.5:c.1816+73_1817-71dup ENSP00000387115.1:n.1816+73_1817-71dup
ENST00000413758.1:c.440-33_440-23dup ENSP00000395751.1:n.440-33_440-23dup
NM_001849.3:c.1816+73_1817-71dup , LRG_476t1:c.1816+73_1817-71dup NP_001840.3:n.1816+73_1817-71dup
NM_058174.2:c.1816+73_1817-71dup NP_478054.2:n.1816+73_1817-71dup
NM_058175.2:c.1816+73_1817-71dup NP_478055.2:n.1816+73_1817-71dup
XM_011529451.1:c.1816+73_1817-71dup XP_011527753.1:n.1816+73_1817-71dup
XM_011529452.1:c.1816+73_1817-71dup XP_011527754.1:n.1816+73_1817-71dup
XR_937438.1:n.1894-81_1894-71dup
XR_937439.1:n.1894-81_1894-71dup
XR_937438.2:n.1901-81_1901-71dup
XR_937439.2:n.1901-81_1901-71dup
NM_001849.4:c.1816+73_1817-71dup MANE Select NP_001840.3:n.1816+73_1817-71dup
NM_058174.3:c.1816+73_1817-71dup MANE Plus Clinical NP_478054.2:n.1816+73_1817-71dup
NM_058175.3:c.1816+73_1817-71dup NP_478055.2:n.1816+73_1817-71dup