Canonical Allele Identifier: CA2499225995

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 1060752
• ClinVar RCV Id: RCV001370221
• dbSNP Id: rs2123663616

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125912_46125913delinsTA , CM000683.2:g.46125912_46125913delinsTA	GRCh38
NC_000021.8:g.47545826_47545827delinsTA , CM000683.1:g.47545826_47545827delinsTA	GRCh37
NC_000021.7:g.46370254_46370255delinsTA	NCBI36
NG_008675.1:g.32794_32795delinsTA , LRG_476:g.32794_32795delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.2097_2098delinsTA MANE Plus Clinical	ENSP00000380870.1:p.Gly700Ser
ENST00000300527.9:c.2097_2098delinsTA MANE Select	ENSP00000300527.4:p.Gly700Ser
ENST00000409416.6:c.2097_2098delinsTA	ENSP00000387115.1:p.Gly700Ser
ENST00000300527.8:c.2097_2098delinsTA	ENSP00000300527.4:p.Gly700Ser
ENST00000310645.9:c.2097_2098delinsTA	ENSP00000312529.5:p.Gly700Ser
ENST00000397763.5:c.2097_2098delinsTA	ENSP00000380870.1:p.Gly700Ser
ENST00000409416.5:c.2097_2098delinsTA	ENSP00000387115.1:p.Gly700Ser
NM_001849.3:c.2097_2098delinsTA , LRG_476t1:c.2097_2098delinsTA	NP_001840.3:p.Gly700Ser
NM_058174.2:c.2097_2098delinsTA	NP_478054.2:p.Gly700Ser
NM_058175.2:c.2097_2098delinsTA	NP_478055.2:p.Gly700Ser
XM_011529451.1:c.2097_2098delinsTA	XP_011527753.1:p.Gly700Ser
XM_011529452.1:c.2097_2098delinsTA	XP_011527754.1:p.Gly700Ser
XR_937438.1:n.2174_2175delinsTA
XR_937439.1:n.2174_2175delinsTA
XR_937438.2:n.2181_2182delinsTA
XR_937439.2:n.2181_2182delinsTA
NM_001849.4:c.2097_2098delinsTA MANE Select	NP_001840.3:p.Gly700Ser
NM_058174.3:c.2097_2098delinsTA MANE Plus Clinical	NP_478054.2:p.Gly700Ser
NM_058175.3:c.2097_2098delinsTA	NP_478055.2:p.Gly700Ser