Canonical Allele Identifier: CA363617377

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132633G>C (hg19) ; chr6:g.33164856G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000683572.1:n.665C>G
ENST00000341947.7:c.4859C>G MANE Select	ENSP00000339915.2:p.Thr1620Arg
ENST00000341947.6:c.4859C>G	ENSP00000339915.2:p.Thr1620Arg
ENST00000361917.5:c.4538C>G	ENSP00000355123.1:p.Thr1513Arg
ENST00000374708.8:c.4601C>G	ENSP00000363840.4:p.Thr1534Arg
ENST00000477772.1:n.649C>G
NM_080679.2:c.4538C>G	NP_542410.2:p.Thr1513Arg
NM_080680.2:c.4859C>G	NP_542411.2:p.Thr1620Arg
NM_080681.2:c.4601C>G	NP_542412.2:p.Thr1534Arg
XM_011514298.1:c.4013C>G	XP_011512600.1:p.Thr1338Arg
XM_011514299.1:c.4145C>G	XP_011512601.1:p.Thr1382Arg
XM_011514300.1:c.3965C>G	XP_011512602.1:p.Thr1322Arg
XM_011514301.1:c.3902C>G	XP_011512603.1:p.Thr1301Arg
XM_011514302.1:c.3746C>G	XP_011512604.1:p.Thr1249Arg
XM_011514299.2:c.4145C>G	XP_011512601.1:p.Thr1382Arg
XM_011514300.2:c.3965C>G	XP_011512602.1:p.Thr1322Arg
XM_011514302.2:c.3746C>G	XP_011512604.1:p.Thr1249Arg
XM_017010250.1:c.4859C>G	XP_016865739.1:p.Thr1620Arg
XM_017010251.2:c.3677C>G	XP_016865740.1:p.Thr1226Arg
NM_080680.3:c.4859C>G MANE Select	NP_542411.2:p.Thr1620Arg
NM_080681.3:c.4601C>G	NP_542412.2:p.Thr1534Arg
NM_080679.3:c.4538C>G	NP_542410.2:p.Thr1513Arg