Canonical Allele Identifier: CA3749948

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 2984209
• ClinVar RCV Id: RCV003843368
• dbSNP Id: rs779453008
• ExAC: 6:33132175 C / T
• gnomAD v2: 6-33132175-C-T
• gnomAD v3: 6-33164398-C-T
• gnomAD v4: 6-33164398-C-T
• MyVariant Identifiers: chr6:g.33132175C>T (hg19) ; chr6:g.33164398C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164398C>T , CM000668.2:g.33164398C>T	GRCh38
NC_000006.11:g.33132175C>T , CM000668.1:g.33132175C>T	GRCh37
NC_000006.10:g.33240153C>T	NCBI36
NG_011589.1:g.33071G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.745G>A
ENST00000341947.7:c.4939G>A MANE Select	ENSP00000339915.2:p.Ala1647Thr
ENST00000341947.6:c.4939G>A	ENSP00000339915.2:p.Ala1647Thr
ENST00000361917.5:c.4618G>A	ENSP00000355123.1:p.Ala1540Thr
ENST00000374708.8:c.4681G>A	ENSP00000363840.4:p.Ala1561Thr
ENST00000477772.1:n.729G>A
NM_080679.2:c.4618G>A	NP_542410.2:p.Ala1540Thr
NM_080680.2:c.4939G>A	NP_542411.2:p.Ala1647Thr
NM_080681.2:c.4681G>A	NP_542412.2:p.Ala1561Thr
XM_011514298.1:c.4093G>A	XP_011512600.1:p.Ala1365Thr
XM_011514299.1:c.4225G>A	XP_011512601.1:p.Ala1409Thr
XM_011514300.1:c.4045G>A	XP_011512602.1:p.Ala1349Thr
XM_011514301.1:c.3982G>A	XP_011512603.1:p.Ala1328Thr
XM_011514302.1:c.3826G>A	XP_011512604.1:p.Ala1276Thr
XM_011514299.2:c.4225G>A	XP_011512601.1:p.Ala1409Thr
XM_011514300.2:c.4045G>A	XP_011512602.1:p.Ala1349Thr
XM_011514302.2:c.3826G>A	XP_011512604.1:p.Ala1276Thr
XM_017010250.1:c.4939G>A	XP_016865739.1:p.Ala1647Thr
XM_017010251.2:c.3757G>A	XP_016865740.1:p.Ala1253Thr
NM_080680.3:c.4939G>A MANE Select	NP_542411.2:p.Ala1647Thr
NM_080681.3:c.4681G>A	NP_542412.2:p.Ala1561Thr
NM_080679.3:c.4618G>A	NP_542410.2:p.Ala1540Thr