Canonical Allele Identifier: CA363636194

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33139329G>C (hg19) ; chr6:g.33171552G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171552G>C , CM000668.2:g.33171552G>C	GRCh38
NC_000006.11:g.33139329G>C , CM000668.1:g.33139329G>C	GRCh37
NC_000006.10:g.33247307G>C	NCBI36
NG_011589.1:g.25917C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000341947.7:c.3173C>G MANE Select	ENSP00000339915.2:p.Pro1058Arg
ENST00000341947.6:c.3173C>G	ENSP00000339915.2:p.Pro1058Arg
ENST00000361917.5:c.2852C>G	ENSP00000355123.1:p.Pro951Arg
ENST00000374708.8:c.2915C>G	ENSP00000363840.4:p.Pro972Arg
ENST00000477772.1:n.272+5457C>G
NM_080679.2:c.2852C>G	NP_542410.2:p.Pro951Arg
NM_080680.2:c.3173C>G	NP_542411.2:p.Pro1058Arg
NM_080681.2:c.2915C>G	NP_542412.2:p.Pro972Arg
XM_011514298.1:c.2327C>G	XP_011512600.1:p.Pro776Arg
XM_011514299.1:c.2459C>G	XP_011512601.1:p.Pro820Arg
XM_011514300.1:c.2279C>G	XP_011512602.1:p.Pro760Arg
XM_011514301.1:c.2216C>G	XP_011512603.1:p.Pro739Arg
XM_011514302.1:c.2060C>G	XP_011512604.1:p.Pro687Arg
XM_011514299.2:c.2459C>G	XP_011512601.1:p.Pro820Arg
XM_011514300.2:c.2279C>G	XP_011512602.1:p.Pro760Arg
XM_011514302.2:c.2060C>G	XP_011512604.1:p.Pro687Arg
XM_017010250.1:c.3173C>G	XP_016865739.1:p.Pro1058Arg
XM_017010251.2:c.1991C>G	XP_016865740.1:p.Pro664Arg
NM_080680.3:c.3173C>G MANE Select	NP_542411.2:p.Pro1058Arg
NM_080681.3:c.2915C>G	NP_542412.2:p.Pro972Arg
NM_080679.3:c.2852C>G	NP_542410.2:p.Pro951Arg