Canonical Allele Identifier: CA363634650

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33138931G>A (hg19) ; chr6:g.33171154G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3326C>T MANE Select	ENSP00000339915.2:p.Pro1109Leu
ENST00000341947.6:c.3326C>T	ENSP00000339915.2:p.Pro1109Leu
ENST00000361917.5:c.3005C>T	ENSP00000355123.1:p.Pro1002Leu
ENST00000374708.8:c.3068C>T	ENSP00000363840.4:p.Pro1023Leu
ENST00000477772.1:n.273-5338C>T
NM_080679.2:c.3005C>T	NP_542410.2:p.Pro1002Leu
NM_080680.2:c.3326C>T	NP_542411.2:p.Pro1109Leu
NM_080681.2:c.3068C>T	NP_542412.2:p.Pro1023Leu
XM_011514298.1:c.2480C>T	XP_011512600.1:p.Pro827Leu
XM_011514299.1:c.2612C>T	XP_011512601.1:p.Pro871Leu
XM_011514300.1:c.2432C>T	XP_011512602.1:p.Pro811Leu
XM_011514301.1:c.2369C>T	XP_011512603.1:p.Pro790Leu
XM_011514302.1:c.2213C>T	XP_011512604.1:p.Pro738Leu
XM_011514299.2:c.2612C>T	XP_011512601.1:p.Pro871Leu
XM_011514300.2:c.2432C>T	XP_011512602.1:p.Pro811Leu
XM_011514302.2:c.2213C>T	XP_011512604.1:p.Pro738Leu
XM_017010250.1:c.3326C>T	XP_016865739.1:p.Pro1109Leu
XM_017010251.2:c.2144C>T	XP_016865740.1:p.Pro715Leu
NM_080680.3:c.3326C>T MANE Select	NP_542411.2:p.Pro1109Leu
NM_080681.3:c.3068C>T	NP_542412.2:p.Pro1023Leu
NM_080679.3:c.3005C>T	NP_542410.2:p.Pro1002Leu