Canonical Allele Identifier: CA363644280

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33142332G>A (hg19) ; chr6:g.33174555G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174555G>A , CM000668.2:g.33174555G>A	GRCh38
NC_000006.11:g.33142332G>A , CM000668.1:g.33142332G>A	GRCh37
NC_000006.10:g.33250310G>A	NCBI36
NG_011589.1:g.22914C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361917.6:c.975C>T
ENST00000341947.7:c.2402C>T MANE Select	ENSP00000339915.2:p.Pro801Leu
ENST00000341947.6:c.2402C>T	ENSP00000339915.2:p.Pro801Leu
ENST00000361917.5:c.2081C>T	ENSP00000355123.1:p.Pro694Leu
ENST00000374708.8:c.2144C>T	ENSP00000363840.4:p.Pro715Leu
ENST00000477772.1:n.272+2454C>T
NM_080679.2:c.2081C>T	NP_542410.2:p.Pro694Leu
NM_080680.2:c.2402C>T	NP_542411.2:p.Pro801Leu
NM_080681.2:c.2144C>T	NP_542412.2:p.Pro715Leu
XM_011514298.1:c.1556C>T	XP_011512600.1:p.Pro519Leu
XM_011514299.1:c.1688C>T	XP_011512601.1:p.Pro563Leu
XM_011514300.1:c.1508C>T	XP_011512602.1:p.Pro503Leu
XM_011514301.1:c.1445C>T	XP_011512603.1:p.Pro482Leu
XM_011514302.1:c.1289C>T	XP_011512604.1:p.Pro430Leu
XM_011514299.2:c.1688C>T	XP_011512601.1:p.Pro563Leu
XM_011514300.2:c.1508C>T	XP_011512602.1:p.Pro503Leu
XM_011514302.2:c.1289C>T	XP_011512604.1:p.Pro430Leu
XM_017010250.1:c.2402C>T	XP_016865739.1:p.Pro801Leu
XM_017010251.2:c.1220C>T	XP_016865740.1:p.Pro407Leu
NM_080680.3:c.2402C>T MANE Select	NP_542411.2:p.Pro801Leu
NM_080681.3:c.2144C>T	NP_542412.2:p.Pro715Leu
NM_080679.3:c.2081C>T	NP_542410.2:p.Pro694Leu