Canonical Allele Identifier: CA363617828

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 1938077
• ClinVar RCV Id: RCV002646168
• gnomAD v4: 6-33164949-T-C
• MyVariant Identifiers: chr6:g.33132726T>C (hg19) ; chr6:g.33164949T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164949T>C , CM000668.2:g.33164949T>C	GRCh38
NC_000006.11:g.33132726T>C , CM000668.1:g.33132726T>C	GRCh37
NC_000006.10:g.33240704T>C	NCBI36
NG_011589.1:g.32520A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.572A>G
ENST00000341947.7:c.4766A>G MANE Select	ENSP00000339915.2:p.Asp1589Gly
ENST00000341947.6:c.4766A>G	ENSP00000339915.2:p.Asp1589Gly
ENST00000361917.5:c.4445A>G	ENSP00000355123.1:p.Asp1482Gly
ENST00000374708.8:c.4508A>G	ENSP00000363840.4:p.Asp1503Gly
ENST00000477772.1:n.556A>G
NM_080679.2:c.4445A>G	NP_542410.2:p.Asp1482Gly
NM_080680.2:c.4766A>G	NP_542411.2:p.Asp1589Gly
NM_080681.2:c.4508A>G	NP_542412.2:p.Asp1503Gly
XM_011514298.1:c.3920A>G	XP_011512600.1:p.Asp1307Gly
XM_011514299.1:c.4052A>G	XP_011512601.1:p.Asp1351Gly
XM_011514300.1:c.3872A>G	XP_011512602.1:p.Asp1291Gly
XM_011514301.1:c.3809A>G	XP_011512603.1:p.Asp1270Gly
XM_011514302.1:c.3653A>G	XP_011512604.1:p.Asp1218Gly
XM_011514299.2:c.4052A>G	XP_011512601.1:p.Asp1351Gly
XM_011514300.2:c.3872A>G	XP_011512602.1:p.Asp1291Gly
XM_011514302.2:c.3653A>G	XP_011512604.1:p.Asp1218Gly
XM_017010250.1:c.4766A>G	XP_016865739.1:p.Asp1589Gly
XM_017010251.2:c.3584A>G	XP_016865740.1:p.Asp1195Gly
NM_080680.3:c.4766A>G MANE Select	NP_542411.2:p.Asp1589Gly
NM_080681.3:c.4508A>G	NP_542412.2:p.Asp1503Gly
NM_080679.3:c.4445A>G	NP_542410.2:p.Asp1482Gly