Canonical Allele Identifier: CA363617383

Gene: COL11A2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164857T>C , CM000668.2:g.33164857T>C	GRCh38
NC_000006.11:g.33132634T>C , CM000668.1:g.33132634T>C	GRCh37
NC_000006.10:g.33240612T>C	NCBI36
NG_011589.1:g.32612A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.664A>G
ENST00000341947.7:c.4858A>G MANE Select	ENSP00000339915.2:p.Thr1620Ala
ENST00000341947.6:c.4858A>G	ENSP00000339915.2:p.Thr1620Ala
ENST00000361917.5:c.4537A>G	ENSP00000355123.1:p.Thr1513Ala
ENST00000374708.8:c.4600A>G	ENSP00000363840.4:p.Thr1534Ala
ENST00000477772.1:n.648A>G
NM_080679.2:c.4537A>G	NP_542410.2:p.Thr1513Ala
NM_080680.2:c.4858A>G	NP_542411.2:p.Thr1620Ala
NM_080681.2:c.4600A>G	NP_542412.2:p.Thr1534Ala
XM_011514298.1:c.4012A>G	XP_011512600.1:p.Thr1338Ala
XM_011514299.1:c.4144A>G	XP_011512601.1:p.Thr1382Ala
XM_011514300.1:c.3964A>G	XP_011512602.1:p.Thr1322Ala
XM_011514301.1:c.3901A>G	XP_011512603.1:p.Thr1301Ala
XM_011514302.1:c.3745A>G	XP_011512604.1:p.Thr1249Ala
XM_011514299.2:c.4144A>G	XP_011512601.1:p.Thr1382Ala
XM_011514300.2:c.3964A>G	XP_011512602.1:p.Thr1322Ala
XM_011514302.2:c.3745A>G	XP_011512604.1:p.Thr1249Ala
XM_017010250.1:c.4858A>G	XP_016865739.1:p.Thr1620Ala
XM_017010251.2:c.3676A>G	XP_016865740.1:p.Thr1226Ala
NM_080680.3:c.4858A>G MANE Select	NP_542411.2:p.Thr1620Ala
NM_080681.3:c.4600A>G	NP_542412.2:p.Thr1534Ala
NM_080679.3:c.4537A>G	NP_542410.2:p.Thr1513Ala