Canonical Allele Identifier: CA16605528

Gene: COL11A2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33176294C>A , CM000668.2:g.33176294C>A	GRCh38
NC_000006.11:g.33144071C>A , CM000668.1:g.33144071C>A	GRCh37
NC_000006.10:g.33252049C>A	NCBI36
NG_011589.1:g.21175G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.752G>T
ENST00000341947.7:c.2179G>T MANE Select	ENSP00000339915.2:p.Gly727Ter
ENST00000341947.6:c.2179G>T	ENSP00000339915.2:p.Gly727Ter
ENST00000361917.5:c.1858G>T	ENSP00000355123.1:p.Gly620Ter
ENST00000374708.8:c.1921G>T	ENSP00000363840.4:p.Gly641Ter
ENST00000477772.1:n.272+715G>T
NM_080679.2:c.1858G>T	NP_542410.2:p.Gly620Ter
NM_080680.2:c.2179G>T	NP_542411.2:p.Gly727Ter
NM_080681.2:c.1921G>T	NP_542412.2:p.Gly641Ter
XM_011514298.1:c.1333G>T	XP_011512600.1:p.Gly445Ter
XM_011514299.1:c.1465G>T	XP_011512601.1:p.Gly489Ter
XM_011514300.1:c.1285G>T	XP_011512602.1:p.Gly429Ter
XM_011514301.1:c.1222G>T	XP_011512603.1:p.Gly408Ter
XM_011514302.1:c.1066G>T	XP_011512604.1:p.Gly356Ter
XM_011514299.2:c.1465G>T	XP_011512601.1:p.Gly489Ter
XM_011514300.2:c.1285G>T	XP_011512602.1:p.Gly429Ter
XM_011514302.2:c.1066G>T	XP_011512604.1:p.Gly356Ter
XM_017010250.1:c.2179G>T	XP_016865739.1:p.Gly727Ter
XM_017010251.2:c.997G>T	XP_016865740.1:p.Gly333Ter
NM_080680.3:c.2179G>T MANE Select	NP_542411.2:p.Gly727Ter
NM_080681.3:c.1921G>T	NP_542412.2:p.Gly641Ter
NM_080679.3:c.1858G>T	NP_542410.2:p.Gly620Ter