Canonical Allele Identifier: CA363616183

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 1311729
• ClinVar RCV Id: RCV001752712
• dbSNP Id: rs1300439797
• gnomAD v2: 6-33132144-C-A
• gnomAD v4: 6-33164367-C-A
• MyVariant Identifiers: chr6:g.33132144C>A (hg19) ; chr6:g.33164367C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164367C>A , CM000668.2:g.33164367C>A	GRCh38
NC_000006.11:g.33132144C>A , CM000668.1:g.33132144C>A	GRCh37
NC_000006.10:g.33240122C>A	NCBI36
NG_011589.1:g.33102G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.776G>T
ENST00000341947.7:c.4970G>T MANE Select	ENSP00000339915.2:p.Gly1657Val
ENST00000341947.6:c.4970G>T	ENSP00000339915.2:p.Gly1657Val
ENST00000361917.5:c.4649G>T	ENSP00000355123.1:p.Gly1550Val
ENST00000374708.8:c.4712G>T	ENSP00000363840.4:p.Gly1571Val
ENST00000477772.1:n.760G>T
NM_080679.2:c.4649G>T	NP_542410.2:p.Gly1550Val
NM_080680.2:c.4970G>T	NP_542411.2:p.Gly1657Val
NM_080681.2:c.4712G>T	NP_542412.2:p.Gly1571Val
XM_011514298.1:c.4124G>T	XP_011512600.1:p.Gly1375Val
XM_011514299.1:c.4256G>T	XP_011512601.1:p.Gly1419Val
XM_011514300.1:c.4076G>T	XP_011512602.1:p.Gly1359Val
XM_011514301.1:c.4013G>T	XP_011512603.1:p.Gly1338Val
XM_011514302.1:c.3857G>T	XP_011512604.1:p.Gly1286Val
XM_011514299.2:c.4256G>T	XP_011512601.1:p.Gly1419Val
XM_011514300.2:c.4076G>T	XP_011512602.1:p.Gly1359Val
XM_011514302.2:c.3857G>T	XP_011512604.1:p.Gly1286Val
XM_017010250.1:c.4970G>T	XP_016865739.1:p.Gly1657Val
XM_017010251.2:c.3788G>T	XP_016865740.1:p.Gly1263Val
NM_080680.3:c.4970G>T MANE Select	NP_542411.2:p.Gly1657Val
NM_080681.3:c.4712G>T	NP_542412.2:p.Gly1571Val
NM_080679.3:c.4649G>T	NP_542410.2:p.Gly1550Val