Canonical Allele Identifier: CA2654970234

Gene: COL6A2

Linked Data

• gnomAD v4: 21-46122572-G-GCACA

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46122572_46122573insCACA , CM000683.2:g.46122572_46122573insCACA	GRCh38
NC_000021.8:g.47542486_47542487insCACA , CM000683.1:g.47542486_47542487insCACA	GRCh37
NC_000021.7:g.46366914_46366915insCACA	NCBI36
NG_008675.1:g.29454_29455insCACA , LRG_476:g.29454_29455insCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1608+41_1608+42insCACA MANE Plus Clinical	ENSP00000380870.1:n.1608+41_1608+42insCACA
ENST00000300527.9:c.1608+41_1608+42insCACA MANE Select	ENSP00000300527.4:n.1608+41_1608+42insCACA
ENST00000409416.6:c.1608+41_1608+42insCACA	ENSP00000387115.1:n.1608+41_1608+42insCACA
ENST00000300527.8:c.1608+41_1608+42insCACA	ENSP00000300527.4:n.1608+41_1608+42insCACA
ENST00000310645.9:c.1608+41_1608+42insCACA	ENSP00000312529.5:n.1608+41_1608+42insCACA
ENST00000397763.5:c.1608+41_1608+42insCACA	ENSP00000380870.1:n.1608+41_1608+42insCACA
ENST00000409416.5:c.1608+41_1608+42insCACA	ENSP00000387115.1:n.1608+41_1608+42insCACA
ENST00000413758.1:c.231+41_231+42insCACA	ENSP00000395751.1:n.231+41_231+42insCACA
NM_001849.3:c.1608+41_1608+42insCACA , LRG_476t1:c.1608+41_1608+42insCACA	NP_001840.3:n.1608+41_1608+42insCACA
NM_058174.2:c.1608+41_1608+42insCACA	NP_478054.2:n.1608+41_1608+42insCACA
NM_058175.2:c.1608+41_1608+42insCACA	NP_478055.2:n.1608+41_1608+42insCACA
XM_011529451.1:c.1608+41_1608+42insCACA	XP_011527753.1:n.1608+41_1608+42insCACA
XM_011529452.1:c.1608+41_1608+42insCACA	XP_011527754.1:n.1608+41_1608+42insCACA
XR_937438.1:n.1731+41_1731+42insCACA
XR_937439.1:n.1731+41_1731+42insCACA
XR_937438.2:n.1738+41_1738+42insCACA
XR_937439.2:n.1738+41_1738+42insCACA
NM_001849.4:c.1608+41_1608+42insCACA MANE Select	NP_001840.3:n.1608+41_1608+42insCACA
NM_058174.3:c.1608+41_1608+42insCACA MANE Plus Clinical	NP_478054.2:n.1608+41_1608+42insCACA
NM_058175.3:c.1608+41_1608+42insCACA	NP_478055.2:n.1608+41_1608+42insCACA