Canonical Allele Identifier: CA363613446
Gene: COL11A2 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33189443C>T , CM000668.2:g.33189443C>T GRCh38
NC_000006.11:g.33157220C>T , CM000668.1:g.33157220C>T GRCh37
NC_000006.10:g.33265198C>T NCBI36
NG_011589.1:g.8026G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000341947.7:c.109G>A MANE Select ENSP00000339915.2:p.Ala37Thr
ENST00000341947.6:c.109G>A ENSP00000339915.2:p.Ala37Thr
ENST00000361917.5:c.109G>A ENSP00000355123.1:p.Ala37Thr
ENST00000374708.8:c.109G>A ENSP00000363840.4:p.Ala37Thr
ENST00000395194.1:c.109G>A ENSP00000378620.1:p.Ala37Thr
ENST00000457788.5:c.109G>A ENSP00000405520.1:p.Ala37Thr
NM_001163771.1:c.109G>A NP_001157243.1:p.Ala37Thr
NM_080679.2:c.109G>A NP_542410.2:p.Ala37Thr
NM_080680.2:c.109G>A NP_542411.2:p.Ala37Thr
NM_080681.2:c.109G>A NP_542412.2:p.Ala37Thr
XM_011514298.1:c.-738G>A XP_011512600.1:n.-738G>A
XM_017010250.1:c.109G>A XP_016865739.1:p.Ala37Thr
NM_001163771.2:c.109G>A NP_001157243.1:p.Ala37Thr
NM_080680.3:c.109G>A MANE Select NP_542411.2:p.Ala37Thr
NM_080681.3:c.109G>A NP_542412.2:p.Ala37Thr
NM_080679.3:c.109G>A NP_542410.2:p.Ala37Thr