Canonical Allele Identifier: CA137061658
Gene: COL11A2 HGNC NCBI

Linked Data

dbSNP Id: rs899091816
gnomAD v3: 6-33164767-G-A
gnomAD v4: 6-33164767-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164767G>A , CM000668.2:g.33164767G>A GRCh38
NC_000006.11:g.33132544G>A , CM000668.1:g.33132544G>A GRCh37
NC_000006.10:g.33240522G>A NCBI36
NG_011589.1:g.32702C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000683572.1:n.669+85C>T
ENST00000341947.7:c.4863+85C>T MANE Select ENSP00000339915.2:n.4863+85C>T
ENST00000341947.6:c.4863+85C>T ENSP00000339915.2:n.4863+85C>T
ENST00000361917.5:c.4542+85C>T ENSP00000355123.1:n.4542+85C>T
ENST00000374708.8:c.4605+85C>T ENSP00000363840.4:n.4605+85C>T
ENST00000477772.1:n.653+85C>T
NM_080679.2:c.4542+85C>T NP_542410.2:n.4542+85C>T
NM_080680.2:c.4863+85C>T NP_542411.2:n.4863+85C>T
NM_080681.2:c.4605+85C>T NP_542412.2:n.4605+85C>T
XM_011514298.1:c.4017+85C>T XP_011512600.1:n.4017+85C>T
XM_011514299.1:c.4149+85C>T XP_011512601.1:n.4149+85C>T
XM_011514300.1:c.3969+85C>T XP_011512602.1:n.3969+85C>T
XM_011514301.1:c.3906+85C>T XP_011512603.1:n.3906+85C>T
XM_011514302.1:c.3750+85C>T XP_011512604.1:n.3750+85C>T
XM_011514299.2:c.4149+85C>T XP_011512601.1:n.4149+85C>T
XM_011514300.2:c.3969+85C>T XP_011512602.1:n.3969+85C>T
XM_011514302.2:c.3750+85C>T XP_011512604.1:n.3750+85C>T
XM_017010250.1:c.4863+85C>T XP_016865739.1:n.4863+85C>T
XM_017010251.2:c.3681+85C>T XP_016865740.1:n.3681+85C>T
NM_080680.3:c.4863+85C>T MANE Select NP_542411.2:n.4863+85C>T
NM_080681.3:c.4605+85C>T NP_542412.2:n.4605+85C>T
NM_080679.3:c.4542+85C>T NP_542410.2:n.4542+85C>T