Canonical Allele Identifier: CA1619890459
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164878C= , CM000668.2:g.33164878C= GRCh38
NC_000006.11:g.33132655C= , CM000668.1:g.33132655C= GRCh37
NC_000006.10:g.33240633C= NCBI36
NG_011589.1:g.32591G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.643G=
ENST00000341947.7:c.4837G= MANE Select ENSP00000339915.2:p.Val1613=
ENST00000341947.6:c.4837G= ENSP00000339915.2:p.Val1613=
ENST00000361917.5:c.4516G= ENSP00000355123.1:p.Val1506=
ENST00000374708.8:c.4579G= ENSP00000363840.4:p.Val1527=
ENST00000477772.1:n.627G=
NM_080679.2:c.4516G= NP_542410.2:p.Val1506=
NM_080680.2:c.4837G= NP_542411.2:p.Val1613=
NM_080681.2:c.4579G= NP_542412.2:p.Val1527=
XM_011514298.1:c.3991G= XP_011512600.1:p.Val1331=
XM_011514299.1:c.4123G= XP_011512601.1:p.Val1375=
XM_011514300.1:c.3943G= XP_011512602.1:p.Val1315=
XM_011514301.1:c.3880G= XP_011512603.1:p.Val1294=
XM_011514302.1:c.3724G= XP_011512604.1:p.Val1242=
XM_011514299.2:c.4123G= XP_011512601.1:p.Val1375=
XM_011514300.2:c.3943G= XP_011512602.1:p.Val1315=
XM_011514302.2:c.3724G= XP_011512604.1:p.Val1242=
XM_017010250.1:c.4837G= XP_016865739.1:p.Val1613=
XM_017010251.2:c.3655G= XP_016865740.1:p.Val1219=
NM_080680.3:c.4837G= MANE Select NP_542411.2:p.Val1613=
NM_080681.3:c.4579G= NP_542412.2:p.Val1527=
NM_080679.3:c.4516G= NP_542410.2:p.Val1506=