Canonical Allele Identifier: CA638181722

Gene: COL6A2

Linked Data

• dbSNP Id: rs1181068083
• gnomAD v2: 21-47534211-C-CAT
• gnomAD v3: 21-46114297-C-CAT
• gnomAD v4: 21-46114297-C-CAT
• MyVariant Identifiers: chr21:g.47534211_47534212insAT (hg19) ; chr21:g.46114297_46114298insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46114297_46114298insAT , CM000683.2:g.46114297_46114298insAT	GRCh38
NC_000021.8:g.47534211_47534212insAT , CM000683.1:g.47534211_47534212insAT	GRCh37
NC_000021.7:g.46358639_46358640insAT	NCBI36
NG_008675.1:g.21179_21180insAT , LRG_476:g.21179_21180insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.801+224_801+225insAT MANE Plus Clinical	ENSP00000380870.1:n.801+224_801+225insAT
ENST00000300527.9:c.801+224_801+225insAT MANE Select	ENSP00000300527.4:n.801+224_801+225insAT
ENST00000409416.6:c.801+224_801+225insAT	ENSP00000387115.1:n.801+224_801+225insAT
ENST00000300527.8:c.801+224_801+225insAT	ENSP00000300527.4:n.801+224_801+225insAT
ENST00000310645.9:c.801+224_801+225insAT	ENSP00000312529.5:n.801+224_801+225insAT
ENST00000397763.5:c.801+224_801+225insAT	ENSP00000380870.1:n.801+224_801+225insAT
ENST00000409416.5:c.801+224_801+225insAT	ENSP00000387115.1:n.801+224_801+225insAT
ENST00000485591.1:n.457+224_457+225insAT
NM_001849.3:c.801+224_801+225insAT , LRG_476t1:c.801+224_801+225insAT	NP_001840.3:n.801+224_801+225insAT
NM_058174.2:c.801+224_801+225insAT	NP_478054.2:n.801+224_801+225insAT
NM_058175.2:c.801+224_801+225insAT	NP_478055.2:n.801+224_801+225insAT
XM_011529451.1:c.801+224_801+225insAT	XP_011527753.1:n.801+224_801+225insAT
XM_011529452.1:c.801+224_801+225insAT	XP_011527754.1:n.801+224_801+225insAT
XR_937438.1:n.924+224_924+225insAT
XR_937439.1:n.924+224_924+225insAT
XR_937438.2:n.931+224_931+225insAT
XR_937439.2:n.931+224_931+225insAT
NM_001849.4:c.801+224_801+225insAT MANE Select	NP_001840.3:n.801+224_801+225insAT
NM_058174.3:c.801+224_801+225insAT MANE Plus Clinical	NP_478054.2:n.801+224_801+225insAT
NM_058175.3:c.801+224_801+225insAT	NP_478055.2:n.801+224_801+225insAT