Canonical Allele Identifier: CA2678231766

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33192338-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33192338T>C , CM000668.2:g.33192338T>C	GRCh38
NC_000006.11:g.33160115T>C , CM000668.1:g.33160115T>C	GRCh37
NC_000006.10:g.33268093T>C	NCBI36
NG_011589.1:g.5131A>G
NG_023374.1:g.13318A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000341947.7:c.-98A>G MANE Select	ENSP00000339915.2:n.-98A>G
ENST00000341947.6:c.-98A>G	ENSP00000339915.2:n.-98A>G
ENST00000361917.5:c.-98A>G	ENSP00000355123.1:n.-98A>G
ENST00000374708.8:c.-98A>G	ENSP00000363840.4:n.-98A>G
ENST00000395194.1:c.-98A>G	ENSP00000378620.1:n.-98A>G
ENST00000457788.5:c.-98A>G	ENSP00000405520.1:n.-98A>G
NM_001163771.1:c.-98A>G	NP_001157243.1:n.-98A>G
NM_080679.2:c.-98A>G	NP_542410.2:n.-98A>G
NM_080680.2:c.-98A>G	NP_542411.2:n.-98A>G
NM_080681.2:c.-98A>G	NP_542412.2:n.-98A>G
XM_011514298.1:c.-765+687A>G	XP_011512600.1:n.-765+687A>G
XM_017010250.1:c.-66-32A>G	XP_016865739.1:n.-66-32A>G
NM_001163771.2:c.-98A>G	NP_001157243.1:n.-98A>G
NM_080680.3:c.-98A>G MANE Select	NP_542411.2:n.-98A>G
NM_080681.3:c.-98A>G	NP_542412.2:n.-98A>G
NM_080679.3:c.-98A>G	NP_542410.2:n.-98A>G