Canonical Allele Identifier: CA363609669

Gene: COL11A2

Linked Data

• dbSNP Id: rs1382644879
• gnomAD v2: 6-33153537-A-C
• gnomAD v4: 6-33185760-A-C
• MyVariant Identifiers: chr6:g.33153537A>C (hg19) ; chr6:g.33185760A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33185760A>C , CM000668.2:g.33185760A>C	GRCh38
NC_000006.11:g.33153537A>C , CM000668.1:g.33153537A>C	GRCh37
NC_000006.10:g.33261515A>C	NCBI36
NG_011589.1:g.11709T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682718.1:n.634T>G
ENST00000341947.7:c.817T>G MANE Select	ENSP00000339915.2:p.Tyr273Asp
ENST00000341947.6:c.817T>G	ENSP00000339915.2:p.Tyr273Asp
ENST00000361917.5:c.798+867T>G	ENSP00000355123.1:n.798+867T>G
ENST00000374708.8:c.799-706T>G	ENSP00000363840.4:n.799-706T>G
ENST00000457788.5:c.817T>G	ENSP00000405520.1:p.Tyr273Asp
NM_080679.2:c.798+867T>G	NP_542410.2:n.798+867T>G
NM_080680.2:c.817T>G	NP_542411.2:p.Tyr273Asp
NM_080681.2:c.799-706T>G	NP_542412.2:n.799-706T>G
XM_011514298.1:c.-30T>G	XP_011512600.1:n.-30T>G
XM_017010250.1:c.817T>G	XP_016865739.1:p.Tyr273Asp
NM_080680.3:c.817T>G MANE Select	NP_542411.2:p.Tyr273Asp
NM_080681.3:c.799-706T>G	NP_542412.2:n.799-706T>G
NM_080679.3:c.798+867T>G	NP_542410.2:n.798+867T>G