Canonical Allele Identifier: CA363616356
Gene: COL11A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164403A>T , CM000668.2:g.33164403A>T GRCh38
NC_000006.11:g.33132180A>T , CM000668.1:g.33132180A>T GRCh37
NC_000006.10:g.33240158A>T NCBI36
NG_011589.1:g.33066T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.740T>A
ENST00000341947.7:c.4934T>A MANE Select ENSP00000339915.2:p.Val1645Asp
ENST00000341947.6:c.4934T>A ENSP00000339915.2:p.Val1645Asp
ENST00000361917.5:c.4613T>A ENSP00000355123.1:p.Val1538Asp
ENST00000374708.8:c.4676T>A ENSP00000363840.4:p.Val1559Asp
ENST00000477772.1:n.724T>A
NM_080679.2:c.4613T>A NP_542410.2:p.Val1538Asp
NM_080680.2:c.4934T>A NP_542411.2:p.Val1645Asp
NM_080681.2:c.4676T>A NP_542412.2:p.Val1559Asp
XM_011514298.1:c.4088T>A XP_011512600.1:p.Val1363Asp
XM_011514299.1:c.4220T>A XP_011512601.1:p.Val1407Asp
XM_011514300.1:c.4040T>A XP_011512602.1:p.Val1347Asp
XM_011514301.1:c.3977T>A XP_011512603.1:p.Val1326Asp
XM_011514302.1:c.3821T>A XP_011512604.1:p.Val1274Asp
XM_011514299.2:c.4220T>A XP_011512601.1:p.Val1407Asp
XM_011514300.2:c.4040T>A XP_011512602.1:p.Val1347Asp
XM_011514302.2:c.3821T>A XP_011512604.1:p.Val1274Asp
XM_017010250.1:c.4934T>A XP_016865739.1:p.Val1645Asp
XM_017010251.2:c.3752T>A XP_016865740.1:p.Val1251Asp
NM_080680.3:c.4934T>A MANE Select NP_542411.2:p.Val1645Asp
NM_080681.3:c.4676T>A NP_542412.2:p.Val1559Asp
NM_080679.3:c.4613T>A NP_542410.2:p.Val1538Asp