Canonical Allele Identifier: CA2678217302

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33174597-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174597A>T , CM000668.2:g.33174597A>T	GRCh38
NC_000006.11:g.33142374A>T , CM000668.1:g.33142374A>T	GRCh37
NC_000006.10:g.33250352A>T	NCBI36
NG_011589.1:g.22872T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.950-17T>A
ENST00000341947.7:c.2377-17T>A MANE Select	ENSP00000339915.2:n.2377-17T>A
ENST00000341947.6:c.2377-17T>A	ENSP00000339915.2:n.2377-17T>A
ENST00000361917.5:c.2056-17T>A	ENSP00000355123.1:n.2056-17T>A
ENST00000374708.8:c.2119-17T>A	ENSP00000363840.4:n.2119-17T>A
ENST00000477772.1:n.272+2412T>A
NM_080679.2:c.2056-17T>A	NP_542410.2:n.2056-17T>A
NM_080680.2:c.2377-17T>A	NP_542411.2:n.2377-17T>A
NM_080681.2:c.2119-17T>A	NP_542412.2:n.2119-17T>A
XM_011514298.1:c.1531-17T>A	XP_011512600.1:n.1531-17T>A
XM_011514299.1:c.1663-17T>A	XP_011512601.1:n.1663-17T>A
XM_011514300.1:c.1483-17T>A	XP_011512602.1:n.1483-17T>A
XM_011514301.1:c.1420-17T>A	XP_011512603.1:n.1420-17T>A
XM_011514302.1:c.1264-17T>A	XP_011512604.1:n.1264-17T>A
XM_011514299.2:c.1663-17T>A	XP_011512601.1:n.1663-17T>A
XM_011514300.2:c.1483-17T>A	XP_011512602.1:n.1483-17T>A
XM_011514302.2:c.1264-17T>A	XP_011512604.1:n.1264-17T>A
XM_017010250.1:c.2377-17T>A	XP_016865739.1:n.2377-17T>A
XM_017010251.2:c.1195-17T>A	XP_016865740.1:n.1195-17T>A
NM_080680.3:c.2377-17T>A MANE Select	NP_542411.2:n.2377-17T>A
NM_080681.3:c.2119-17T>A	NP_542412.2:n.2119-17T>A
NM_080679.3:c.2056-17T>A	NP_542410.2:n.2056-17T>A