Canonical Allele Identifier: CA2770564442
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33192273_33192359dup , CM000668.2:g.33192273_33192359dup GRCh38
NC_000006.11:g.33160050_33160136dup , CM000668.1:g.33160050_33160136dup GRCh37
NC_000006.10:g.33268028_33268114dup NCBI36
NG_011589.1:g.5122_5208dup
NG_023374.1:g.13309_13395dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000341947.7:c.-107_-21dup MANE Select ENSP00000339915.2:n.-107_-21dup
ENST00000341947.6:c.-107_-21dup ENSP00000339915.2:n.-107_-21dup
ENST00000361917.5:c.-107_-21dup ENSP00000355123.1:n.-107_-21dup
ENST00000374708.8:c.-107_-21dup ENSP00000363840.4:n.-107_-21dup
ENST00000395194.1:c.-107_-21dup ENSP00000378620.1:n.-107_-21dup
ENST00000457788.5:c.-107_-21dup ENSP00000405520.1:n.-107_-21dup
NM_001163771.1:c.-107_-21dup NP_001157243.1:n.-107_-21dup
NM_080679.2:c.-107_-21dup NP_542410.2:n.-107_-21dup
NM_080680.2:c.-107_-21dup NP_542411.2:n.-107_-21dup
NM_080681.2:c.-107_-21dup NP_542412.2:n.-107_-21dup
XM_011514298.1:c.-765+678_-765+764dup XP_011512600.1:n.-765+678_-765+764dup
XM_017010250.1:c.-66-41_-21dup
NM_001163771.2:c.-107_-21dup NP_001157243.1:n.-107_-21dup
NM_080680.3:c.-107_-21dup MANE Select NP_542411.2:n.-107_-21dup
NM_080681.3:c.-107_-21dup NP_542412.2:n.-107_-21dup
NM_080679.3:c.-107_-21dup NP_542410.2:n.-107_-21dup