Canonical Allele Identifier: CA363634657

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33138932G>T (hg19) ; chr6:g.33171155G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171155G>T , CM000668.2:g.33171155G>T	GRCh38
NC_000006.11:g.33138932G>T , CM000668.1:g.33138932G>T	GRCh37
NC_000006.10:g.33246910G>T	NCBI36
NG_011589.1:g.26314C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3325C>A MANE Select	ENSP00000339915.2:p.Pro1109Thr
ENST00000341947.6:c.3325C>A	ENSP00000339915.2:p.Pro1109Thr
ENST00000361917.5:c.3004C>A	ENSP00000355123.1:p.Pro1002Thr
ENST00000374708.8:c.3067C>A	ENSP00000363840.4:p.Pro1023Thr
ENST00000477772.1:n.273-5339C>A
NM_080679.2:c.3004C>A	NP_542410.2:p.Pro1002Thr
NM_080680.2:c.3325C>A	NP_542411.2:p.Pro1109Thr
NM_080681.2:c.3067C>A	NP_542412.2:p.Pro1023Thr
XM_011514298.1:c.2479C>A	XP_011512600.1:p.Pro827Thr
XM_011514299.1:c.2611C>A	XP_011512601.1:p.Pro871Thr
XM_011514300.1:c.2431C>A	XP_011512602.1:p.Pro811Thr
XM_011514301.1:c.2368C>A	XP_011512603.1:p.Pro790Thr
XM_011514302.1:c.2212C>A	XP_011512604.1:p.Pro738Thr
XM_011514299.2:c.2611C>A	XP_011512601.1:p.Pro871Thr
XM_011514300.2:c.2431C>A	XP_011512602.1:p.Pro811Thr
XM_011514302.2:c.2212C>A	XP_011512604.1:p.Pro738Thr
XM_017010250.1:c.3325C>A	XP_016865739.1:p.Pro1109Thr
XM_017010251.2:c.2143C>A	XP_016865740.1:p.Pro715Thr
NM_080680.3:c.3325C>A MANE Select	NP_542411.2:p.Pro1109Thr
NM_080681.3:c.3067C>A	NP_542412.2:p.Pro1023Thr
NM_080679.3:c.3004C>A	NP_542410.2:p.Pro1002Thr