Canonical Allele Identifier: CA449867049

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132200G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164423G>C , CM000668.2:g.33164423G>C	GRCh38
NC_000006.11:g.33132200G>C , CM000668.1:g.33132200G>C	GRCh37
NC_000006.10:g.33240178G>C	NCBI36
NG_011589.1:g.33046C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.720C>G
ENST00000341947.7:c.4914C>G MANE Select	ENSP00000339915.2:p.Thr1638=
ENST00000341947.6:c.4914C>G	ENSP00000339915.2:p.Thr1638=
ENST00000361917.5:c.4593C>G	ENSP00000355123.1:p.Thr1531=
ENST00000374708.8:c.4656C>G	ENSP00000363840.4:p.Thr1552=
ENST00000477772.1:n.704C>G
NM_080679.2:c.4593C>G	NP_542410.2:p.Thr1531=
NM_080680.2:c.4914C>G	NP_542411.2:p.Thr1638=
NM_080681.2:c.4656C>G	NP_542412.2:p.Thr1552=
XM_011514298.1:c.4068C>G	XP_011512600.1:p.Thr1356=
XM_011514299.1:c.4200C>G	XP_011512601.1:p.Thr1400=
XM_011514300.1:c.4020C>G	XP_011512602.1:p.Thr1340=
XM_011514301.1:c.3957C>G	XP_011512603.1:p.Thr1319=
XM_011514302.1:c.3801C>G	XP_011512604.1:p.Thr1267=
XM_011514299.2:c.4200C>G	XP_011512601.1:p.Thr1400=
XM_011514300.2:c.4020C>G	XP_011512602.1:p.Thr1340=
XM_011514302.2:c.3801C>G	XP_011512604.1:p.Thr1267=
XM_017010250.1:c.4914C>G	XP_016865739.1:p.Thr1638=
XM_017010251.2:c.3732C>G	XP_016865740.1:p.Thr1244=
NM_080680.3:c.4914C>G MANE Select	NP_542411.2:p.Thr1638=
NM_080681.3:c.4656C>G	NP_542412.2:p.Thr1552=
NM_080679.3:c.4593C>G	NP_542410.2:p.Thr1531=