Canonical Allele Identifier: CA3749941

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 1416490
• ClinVar RCV Id: RCV001935724
• dbSNP Id: rs202191908
• ExAC: 6:33132135 C / T
• gnomAD v2: 6-33132135-C-T
• gnomAD v3: 6-33164358-C-T
• gnomAD v4: 6-33164358-C-T
• COSMIC: COSM3349287
• MyVariant Identifiers: chr6:g.33132135C>T (hg19) ; chr6:g.33164358C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164358C>T , CM000668.2:g.33164358C>T	GRCh38
NC_000006.11:g.33132135C>T , CM000668.1:g.33132135C>T	GRCh37
NC_000006.10:g.33240113C>T	NCBI36
NG_011589.1:g.33111G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.785G>A
ENST00000341947.7:c.4979G>A MANE Select	ENSP00000339915.2:p.Arg1660His
ENST00000341947.6:c.4979G>A	ENSP00000339915.2:p.Arg1660His
ENST00000361917.5:c.4658G>A	ENSP00000355123.1:p.Arg1553His
ENST00000374708.8:c.4721G>A	ENSP00000363840.4:p.Arg1574His
ENST00000477772.1:n.769G>A
NM_080679.2:c.4658G>A	NP_542410.2:p.Arg1553His
NM_080680.2:c.4979G>A	NP_542411.2:p.Arg1660His
NM_080681.2:c.4721G>A	NP_542412.2:p.Arg1574His
XM_011514298.1:c.4133G>A	XP_011512600.1:p.Arg1378His
XM_011514299.1:c.4265G>A	XP_011512601.1:p.Arg1422His
XM_011514300.1:c.4085G>A	XP_011512602.1:p.Arg1362His
XM_011514301.1:c.4022G>A	XP_011512603.1:p.Arg1341His
XM_011514302.1:c.3866G>A	XP_011512604.1:p.Arg1289His
XM_011514299.2:c.4265G>A	XP_011512601.1:p.Arg1422His
XM_011514300.2:c.4085G>A	XP_011512602.1:p.Arg1362His
XM_011514302.2:c.3866G>A	XP_011512604.1:p.Arg1289His
XM_017010250.1:c.4979G>A	XP_016865739.1:p.Arg1660His
XM_017010251.2:c.3797G>A	XP_016865740.1:p.Arg1266His
NM_080680.3:c.4979G>A MANE Select	NP_542411.2:p.Arg1660His
NM_080681.3:c.4721G>A	NP_542412.2:p.Arg1574His
NM_080679.3:c.4658G>A	NP_542410.2:p.Arg1553His