Canonical Allele Identifier: CA3749986

Gene: COL11A2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164856G>A , CM000668.2:g.33164856G>A	GRCh38
NC_000006.11:g.33132633G>A , CM000668.1:g.33132633G>A	GRCh37
NC_000006.10:g.33240611G>A	NCBI36
NG_011589.1:g.32613C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.665C>T
ENST00000341947.7:c.4859C>T MANE Select	ENSP00000339915.2:p.Thr1620Met
ENST00000341947.6:c.4859C>T	ENSP00000339915.2:p.Thr1620Met
ENST00000361917.5:c.4538C>T	ENSP00000355123.1:p.Thr1513Met
ENST00000374708.8:c.4601C>T	ENSP00000363840.4:p.Thr1534Met
ENST00000477772.1:n.649C>T
NM_080679.2:c.4538C>T	NP_542410.2:p.Thr1513Met
NM_080680.2:c.4859C>T	NP_542411.2:p.Thr1620Met
NM_080681.2:c.4601C>T	NP_542412.2:p.Thr1534Met
XM_011514298.1:c.4013C>T	XP_011512600.1:p.Thr1338Met
XM_011514299.1:c.4145C>T	XP_011512601.1:p.Thr1382Met
XM_011514300.1:c.3965C>T	XP_011512602.1:p.Thr1322Met
XM_011514301.1:c.3902C>T	XP_011512603.1:p.Thr1301Met
XM_011514302.1:c.3746C>T	XP_011512604.1:p.Thr1249Met
XM_011514299.2:c.4145C>T	XP_011512601.1:p.Thr1382Met
XM_011514300.2:c.3965C>T	XP_011512602.1:p.Thr1322Met
XM_011514302.2:c.3746C>T	XP_011512604.1:p.Thr1249Met
XM_017010250.1:c.4859C>T	XP_016865739.1:p.Thr1620Met
XM_017010251.2:c.3677C>T	XP_016865740.1:p.Thr1226Met
NM_080680.3:c.4859C>T MANE Select	NP_542411.2:p.Thr1620Met
NM_080681.3:c.4601C>T	NP_542412.2:p.Thr1534Met
NM_080679.3:c.4538C>T	NP_542410.2:p.Thr1513Met