Canonical Allele Identifier: CA363634651

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33171154-G-C
• MyVariant Identifiers: chr6:g.33138931G>C (hg19) ; chr6:g.33171154G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171154G>C , CM000668.2:g.33171154G>C	GRCh38
NC_000006.11:g.33138931G>C , CM000668.1:g.33138931G>C	GRCh37
NC_000006.10:g.33246909G>C	NCBI36
NG_011589.1:g.26315C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3326C>G MANE Select	ENSP00000339915.2:p.Pro1109Arg
ENST00000341947.6:c.3326C>G	ENSP00000339915.2:p.Pro1109Arg
ENST00000361917.5:c.3005C>G	ENSP00000355123.1:p.Pro1002Arg
ENST00000374708.8:c.3068C>G	ENSP00000363840.4:p.Pro1023Arg
ENST00000477772.1:n.273-5338C>G
NM_080679.2:c.3005C>G	NP_542410.2:p.Pro1002Arg
NM_080680.2:c.3326C>G	NP_542411.2:p.Pro1109Arg
NM_080681.2:c.3068C>G	NP_542412.2:p.Pro1023Arg
XM_011514298.1:c.2480C>G	XP_011512600.1:p.Pro827Arg
XM_011514299.1:c.2612C>G	XP_011512601.1:p.Pro871Arg
XM_011514300.1:c.2432C>G	XP_011512602.1:p.Pro811Arg
XM_011514301.1:c.2369C>G	XP_011512603.1:p.Pro790Arg
XM_011514302.1:c.2213C>G	XP_011512604.1:p.Pro738Arg
XM_011514299.2:c.2612C>G	XP_011512601.1:p.Pro871Arg
XM_011514300.2:c.2432C>G	XP_011512602.1:p.Pro811Arg
XM_011514302.2:c.2213C>G	XP_011512604.1:p.Pro738Arg
XM_017010250.1:c.3326C>G	XP_016865739.1:p.Pro1109Arg
XM_017010251.2:c.2144C>G	XP_016865740.1:p.Pro715Arg
NM_080680.3:c.3326C>G MANE Select	NP_542411.2:p.Pro1109Arg
NM_080681.3:c.3068C>G	NP_542412.2:p.Pro1023Arg
NM_080679.3:c.3005C>G	NP_542410.2:p.Pro1002Arg