Canonical Allele Identifier: CA2678228808

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33185658-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33185658T>A , CM000668.2:g.33185658T>A	GRCh38
NC_000006.11:g.33153435T>A , CM000668.1:g.33153435T>A	GRCh37
NC_000006.10:g.33261413T>A	NCBI36
NG_011589.1:g.11811A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682718.1:n.693+43A>T
ENST00000341947.7:c.876+43A>T MANE Select	ENSP00000339915.2:n.876+43A>T
ENST00000341947.6:c.876+43A>T	ENSP00000339915.2:n.876+43A>T
ENST00000361917.5:c.798+969A>T	ENSP00000355123.1:n.798+969A>T
ENST00000374708.8:c.799-604A>T	ENSP00000363840.4:n.799-604A>T
ENST00000457788.5:c.876+43A>T	ENSP00000405520.1:n.876+43A>T
NM_080679.2:c.798+969A>T	NP_542410.2:n.798+969A>T
NM_080680.2:c.876+43A>T	NP_542411.2:n.876+43A>T
NM_080681.2:c.799-604A>T	NP_542412.2:n.799-604A>T
XM_011514298.1:c.30+43A>T	XP_011512600.1:n.30+43A>T
XM_011514299.1:c.-213A>T	XP_011512601.1:n.-213A>T
XM_011514300.1:c.-213A>T	XP_011512602.1:n.-213A>T
XM_011514301.1:c.-213A>T	XP_011512603.1:n.-213A>T
XM_011514299.2:c.-213A>T	XP_011512601.1:n.-213A>T
XM_011514300.2:c.-213A>T	XP_011512602.1:n.-213A>T
XM_017010250.1:c.876+43A>T	XP_016865739.1:n.876+43A>T
NM_080680.3:c.876+43A>T MANE Select	NP_542411.2:n.876+43A>T
NM_080681.3:c.799-604A>T	NP_542412.2:n.799-604A>T
NM_080679.3:c.798+969A>T	NP_542410.2:n.798+969A>T