Canonical Allele Identifier: CA2678231767
Gene: COL11A2 HGNC NCBI

Linked Data

gnomAD v4: 6-33192339-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33192339C>A , CM000668.2:g.33192339C>A GRCh38
NC_000006.11:g.33160116C>A , CM000668.1:g.33160116C>A GRCh37
NC_000006.10:g.33268094C>A NCBI36
NG_011589.1:g.5130G>T
NG_023374.1:g.13317G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000341947.7:c.-99G>T MANE Select ENSP00000339915.2:n.-99G>T
ENST00000341947.6:c.-99G>T ENSP00000339915.2:n.-99G>T
ENST00000361917.5:c.-99G>T ENSP00000355123.1:n.-99G>T
ENST00000374708.8:c.-99G>T ENSP00000363840.4:n.-99G>T
ENST00000395194.1:c.-99G>T ENSP00000378620.1:n.-99G>T
ENST00000457788.5:c.-99G>T ENSP00000405520.1:n.-99G>T
NM_001163771.1:c.-99G>T NP_001157243.1:n.-99G>T
NM_080679.2:c.-99G>T NP_542410.2:n.-99G>T
NM_080680.2:c.-99G>T NP_542411.2:n.-99G>T
NM_080681.2:c.-99G>T NP_542412.2:n.-99G>T
XM_011514298.1:c.-765+686G>T XP_011512600.1:n.-765+686G>T
XM_017010250.1:c.-66-33G>T XP_016865739.1:n.-66-33G>T
NM_001163771.2:c.-99G>T NP_001157243.1:n.-99G>T
NM_080680.3:c.-99G>T MANE Select NP_542411.2:n.-99G>T
NM_080681.3:c.-99G>T NP_542412.2:n.-99G>T
NM_080679.3:c.-99G>T NP_542410.2:n.-99G>T