Canonical Allele Identifier: CA10626497

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 356413
• ClinVar RCV Id: RCV000301455 ; RCV000335420 ; RCV000341141 ; RCV000390303
• dbSNP Id: rs886061319
• gnomAD v4: 6-33192332-T-C
• MyVariant Identifiers: chr6:g.33160109T>C (hg19) ; chr6:g.33192332T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33192332T>C , CM000668.2:g.33192332T>C	GRCh38
NC_000006.11:g.33160109T>C , CM000668.1:g.33160109T>C	GRCh37
NC_000006.10:g.33268087T>C	NCBI36
NG_011589.1:g.5137A>G
NG_023374.1:g.13324A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000341947.7:c.-92A>G MANE Select	ENSP00000339915.2:n.-92A>G
ENST00000341947.6:c.-92A>G	ENSP00000339915.2:n.-92A>G
ENST00000361917.5:c.-92A>G	ENSP00000355123.1:n.-92A>G
ENST00000374708.8:c.-92A>G	ENSP00000363840.4:n.-92A>G
ENST00000395194.1:c.-92A>G	ENSP00000378620.1:n.-92A>G
ENST00000457788.5:c.-92A>G	ENSP00000405520.1:n.-92A>G
NM_001163771.1:c.-92A>G	NP_001157243.1:n.-92A>G
NM_080679.2:c.-92A>G	NP_542410.2:n.-92A>G
NM_080680.2:c.-92A>G	NP_542411.2:n.-92A>G
NM_080681.2:c.-92A>G	NP_542412.2:n.-92A>G
XM_011514298.1:c.-765+693A>G	XP_011512600.1:n.-765+693A>G
XM_017010250.1:c.-66-26A>G	XP_016865739.1:n.-66-26A>G
NM_001163771.2:c.-92A>G	NP_001157243.1:n.-92A>G
NM_080680.3:c.-92A>G MANE Select	NP_542411.2:n.-92A>G
NM_080681.3:c.-92A>G	NP_542412.2:n.-92A>G
NM_080679.3:c.-92A>G	NP_542410.2:n.-92A>G