Canonical Allele Identifier: CA363644215

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33142323G>C (hg19) ; chr6:g.33174546G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174546G>C , CM000668.2:g.33174546G>C	GRCh38
NC_000006.11:g.33142323G>C , CM000668.1:g.33142323G>C	GRCh37
NC_000006.10:g.33250301G>C	NCBI36
NG_011589.1:g.22923C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361917.6:c.984C>G
ENST00000341947.7:c.2411C>G MANE Select	ENSP00000339915.2:p.Pro804Arg
ENST00000341947.6:c.2411C>G	ENSP00000339915.2:p.Pro804Arg
ENST00000361917.5:c.2090C>G	ENSP00000355123.1:p.Pro697Arg
ENST00000374708.8:c.2153C>G	ENSP00000363840.4:p.Pro718Arg
ENST00000477772.1:n.272+2463C>G
NM_080679.2:c.2090C>G	NP_542410.2:p.Pro697Arg
NM_080680.2:c.2411C>G	NP_542411.2:p.Pro804Arg
NM_080681.2:c.2153C>G	NP_542412.2:p.Pro718Arg
XM_011514298.1:c.1565C>G	XP_011512600.1:p.Pro522Arg
XM_011514299.1:c.1697C>G	XP_011512601.1:p.Pro566Arg
XM_011514300.1:c.1517C>G	XP_011512602.1:p.Pro506Arg
XM_011514301.1:c.1454C>G	XP_011512603.1:p.Pro485Arg
XM_011514302.1:c.1298C>G	XP_011512604.1:p.Pro433Arg
XM_011514299.2:c.1697C>G	XP_011512601.1:p.Pro566Arg
XM_011514300.2:c.1517C>G	XP_011512602.1:p.Pro506Arg
XM_011514302.2:c.1298C>G	XP_011512604.1:p.Pro433Arg
XM_017010250.1:c.2411C>G	XP_016865739.1:p.Pro804Arg
XM_017010251.2:c.1229C>G	XP_016865740.1:p.Pro410Arg
NM_080680.3:c.2411C>G MANE Select	NP_542411.2:p.Pro804Arg
NM_080681.3:c.2153C>G	NP_542412.2:p.Pro718Arg
NM_080679.3:c.2090C>G	NP_542410.2:p.Pro697Arg