Canonical Allele Identifier: CA16621031
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 422287
ClinVar RCV Id: RCV000479621
dbSNP Id: rs1064795685
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46125853_46125854delinsA , CM000683.2:g.46125853_46125854delinsA GRCh38
NC_000021.8:g.47545767_47545768delinsA , CM000683.1:g.47545767_47545768delinsA GRCh37
NC_000021.7:g.46370195_46370196delinsA NCBI36
NG_008675.1:g.32735_32736delinsA , LRG_476:g.32735_32736delinsA

Transcript Alleles

HGVS Amino-acid change
ENST00000397763.6:c.2038_2039delinsA MANE Plus Clinical ENSP00000380870.1:p.Arg680IlefsTer?
ENST00000300527.9:c.2038_2039delinsA MANE Select ENSP00000300527.4:p.Arg680IlefsTer?
ENST00000409416.6:c.2038_2039delinsA ENSP00000387115.1:p.Arg680IlefsTer?
ENST00000300527.8:c.2038_2039delinsA ENSP00000300527.4:p.Arg680IlefsTer?
ENST00000310645.9:c.2038_2039delinsA ENSP00000312529.5:p.Arg680IlefsTer?
ENST00000397763.5:c.2038_2039delinsA ENSP00000380870.1:p.Arg680IlefsTer?
ENST00000409416.5:c.2038_2039delinsA ENSP00000387115.1:p.Arg680IlefsTer?
ENST00000413758.1:c.709_710delinsA ENSP00000395751.1:p.Arg237IlefsTer?
NM_001849.3:c.2038_2039delinsA , LRG_476t1:c.2038_2039delinsA NP_001840.3:p.Arg680IlefsTer?
NM_058174.2:c.2038_2039delinsA NP_478054.2:p.Arg680IlefsTer?
NM_058175.2:c.2038_2039delinsA NP_478055.2:p.Arg680IlefsTer?
XM_011529451.1:c.2038_2039delinsA XP_011527753.1:p.Arg680IlefsTer?
XM_011529452.1:c.2038_2039delinsA XP_011527754.1:p.Arg680IlefsTer?
XR_937438.1:n.2115_2116delinsA
XR_937439.1:n.2115_2116delinsA
XR_937438.2:n.2122_2123delinsA
XR_937439.2:n.2122_2123delinsA
NM_001849.4:c.2038_2039delinsA MANE Select NP_001840.3:p.Arg680IlefsTer?
NM_058174.3:c.2038_2039delinsA MANE Plus Clinical NP_478054.2:p.Arg680IlefsTer?
NM_058175.3:c.2038_2039delinsA NP_478055.2:p.Arg680IlefsTer?
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