Canonical Allele Identifier: CA449867086

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 2723293
• ClinVar RCV Id: RCV003559282
• dbSNP Id: rs1768794918
• gnomAD v4: 6-33164468-A-G
• MyVariant Identifiers: chr6:g.33132245A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164468A>G , CM000668.2:g.33164468A>G	GRCh38
NC_000006.11:g.33132245A>G , CM000668.1:g.33132245A>G	GRCh37
NC_000006.10:g.33240223A>G	NCBI36
NG_011589.1:g.33001T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.675T>C
ENST00000341947.7:c.4869T>C MANE Select	ENSP00000339915.2:p.Ser1623=
ENST00000341947.6:c.4869T>C	ENSP00000339915.2:p.Ser1623=
ENST00000361917.5:c.4548T>C	ENSP00000355123.1:p.Ser1516=
ENST00000374708.8:c.4611T>C	ENSP00000363840.4:p.Ser1537=
ENST00000477772.1:n.659T>C
NM_080679.2:c.4548T>C	NP_542410.2:p.Ser1516=
NM_080680.2:c.4869T>C	NP_542411.2:p.Ser1623=
NM_080681.2:c.4611T>C	NP_542412.2:p.Ser1537=
XM_011514298.1:c.4023T>C	XP_011512600.1:p.Ser1341=
XM_011514299.1:c.4155T>C	XP_011512601.1:p.Ser1385=
XM_011514300.1:c.3975T>C	XP_011512602.1:p.Ser1325=
XM_011514301.1:c.3912T>C	XP_011512603.1:p.Ser1304=
XM_011514302.1:c.3756T>C	XP_011512604.1:p.Ser1252=
XM_011514299.2:c.4155T>C	XP_011512601.1:p.Ser1385=
XM_011514300.2:c.3975T>C	XP_011512602.1:p.Ser1325=
XM_011514302.2:c.3756T>C	XP_011512604.1:p.Ser1252=
XM_017010250.1:c.4869T>C	XP_016865739.1:p.Ser1623=
XM_017010251.2:c.3687T>C	XP_016865740.1:p.Ser1229=
NM_080680.3:c.4869T>C MANE Select	NP_542411.2:p.Ser1623=
NM_080681.3:c.4611T>C	NP_542412.2:p.Ser1537=
NM_080679.3:c.4548T>C	NP_542410.2:p.Ser1516=