Canonical Allele Identifier: CA2678231763
Gene: COL11A2 HGNC NCBI

Linked Data

gnomAD v4: 6-33192337-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33192337C>T , CM000668.2:g.33192337C>T GRCh38
NC_000006.11:g.33160114C>T , CM000668.1:g.33160114C>T GRCh37
NC_000006.10:g.33268092C>T NCBI36
NG_011589.1:g.5132G>A
NG_023374.1:g.13319G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000341947.7:c.-97G>A MANE Select ENSP00000339915.2:n.-97G>A
ENST00000341947.6:c.-97G>A ENSP00000339915.2:n.-97G>A
ENST00000361917.5:c.-97G>A ENSP00000355123.1:n.-97G>A
ENST00000374708.8:c.-97G>A ENSP00000363840.4:n.-97G>A
ENST00000395194.1:c.-97G>A ENSP00000378620.1:n.-97G>A
ENST00000457788.5:c.-97G>A ENSP00000405520.1:n.-97G>A
NM_001163771.1:c.-97G>A NP_001157243.1:n.-97G>A
NM_080679.2:c.-97G>A NP_542410.2:n.-97G>A
NM_080680.2:c.-97G>A NP_542411.2:n.-97G>A
NM_080681.2:c.-97G>A NP_542412.2:n.-97G>A
XM_011514298.1:c.-765+688G>A XP_011512600.1:n.-765+688G>A
XM_017010250.1:c.-66-31G>A XP_016865739.1:n.-66-31G>A
NM_001163771.2:c.-97G>A NP_001157243.1:n.-97G>A
NM_080680.3:c.-97G>A MANE Select NP_542411.2:n.-97G>A
NM_080681.3:c.-97G>A NP_542412.2:n.-97G>A
NM_080679.3:c.-97G>A NP_542410.2:n.-97G>A