Canonical Allele Identifier: CA138638
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33185058A>T , CM000668.2:g.33185058A>T GRCh38
NC_000006.11:g.33152835A>T , CM000668.1:g.33152835A>T GRCh37
NC_000006.10:g.33260813A>T NCBI36
NG_011589.1:g.12411T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682718.1:n.694-4T>A
ENST00000341947.7:c.877-4T>A MANE Select ENSP00000339915.2:n.877-4T>A
ENST00000341947.6:c.877-4T>A ENSP00000339915.2:n.877-4T>A
ENST00000361917.5:c.798+1569T>A ENSP00000355123.1:n.798+1569T>A
ENST00000374708.8:c.799-4T>A ENSP00000363840.4:n.799-4T>A
ENST00000457788.5:c.877-4T>A ENSP00000405520.1:n.877-4T>A
NM_080679.2:c.798+1569T>A NP_542410.2:n.798+1569T>A
NM_080680.2:c.877-4T>A NP_542411.2:n.877-4T>A
NM_080681.2:c.799-4T>A NP_542412.2:n.799-4T>A
XM_011514298.1:c.31-4T>A XP_011512600.1:n.31-4T>A
XM_011514299.1:c.163-4T>A XP_011512601.1:n.163-4T>A
XM_011514300.1:c.163-4T>A XP_011512602.1:n.163-4T>A
XM_011514301.1:c.162+226T>A XP_011512603.1:n.162+226T>A
XM_011514299.2:c.163-4T>A XP_011512601.1:n.163-4T>A
XM_011514300.2:c.163-4T>A XP_011512602.1:n.163-4T>A
XM_017010250.1:c.877-4T>A XP_016865739.1:n.877-4T>A
NM_080680.3:c.877-4T>A MANE Select NP_542411.2:n.877-4T>A
NM_080681.3:c.799-4T>A NP_542412.2:n.799-4T>A
NM_080679.3:c.798+1569T>A NP_542410.2:n.798+1569T>A