Canonical Allele Identifier: CA175561

Gene: COL11A2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33167508G>T , CM000668.2:g.33167508G>T	GRCh38
NC_000006.11:g.33135285G>T , CM000668.1:g.33135285G>T	GRCh37
NC_000006.10:g.33243263G>T	NCBI36
NG_011589.1:g.29961C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.7C>A
ENST00000341947.7:c.4040C>A MANE Select	ENSP00000339915.2:p.Pro1347Gln
ENST00000341947.6:c.4040C>A	ENSP00000339915.2:p.Pro1347Gln
ENST00000361917.5:c.3719C>A	ENSP00000355123.1:p.Pro1240Gln
ENST00000374708.8:c.3782C>A	ENSP00000363840.4:p.Pro1261Gln
ENST00000477772.1:n.273-1692C>A
NM_080679.2:c.3719C>A	NP_542410.2:p.Pro1240Gln
NM_080680.2:c.4040C>A	NP_542411.2:p.Pro1347Gln
NM_080681.2:c.3782C>A	NP_542412.2:p.Pro1261Gln
XM_011514298.1:c.3194C>A	XP_011512600.1:p.Pro1065Gln
XM_011514299.1:c.3326C>A	XP_011512601.1:p.Pro1109Gln
XM_011514300.1:c.3146C>A	XP_011512602.1:p.Pro1049Gln
XM_011514301.1:c.3083C>A	XP_011512603.1:p.Pro1028Gln
XM_011514302.1:c.2927C>A	XP_011512604.1:p.Pro976Gln
XM_011514299.2:c.3326C>A	XP_011512601.1:p.Pro1109Gln
XM_011514300.2:c.3146C>A	XP_011512602.1:p.Pro1049Gln
XM_011514302.2:c.2927C>A	XP_011512604.1:p.Pro976Gln
XM_017010250.1:c.4040C>A	XP_016865739.1:p.Pro1347Gln
XM_017010251.2:c.2858C>A	XP_016865740.1:p.Pro953Gln
NM_080680.3:c.4040C>A MANE Select	NP_542411.2:p.Pro1347Gln
NM_080681.3:c.3782C>A	NP_542412.2:p.Pro1261Gln
NM_080679.3:c.3719C>A	NP_542410.2:p.Pro1240Gln