Canonical Allele Identifier: CA1619889838
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164436A= , CM000668.2:g.33164436A= GRCh38
NC_000006.11:g.33132213A= , CM000668.1:g.33132213A= GRCh37
NC_000006.10:g.33240191A= NCBI36
NG_011589.1:g.33033T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.707T=
ENST00000341947.7:c.4901T= MANE Select ENSP00000339915.2:p.Val1634=
ENST00000341947.6:c.4901T= ENSP00000339915.2:p.Val1634=
ENST00000361917.5:c.4580T= ENSP00000355123.1:p.Val1527=
ENST00000374708.8:c.4643T= ENSP00000363840.4:p.Val1548=
ENST00000477772.1:n.691T=
NM_080679.2:c.4580T= NP_542410.2:p.Val1527=
NM_080680.2:c.4901T= NP_542411.2:p.Val1634=
NM_080681.2:c.4643T= NP_542412.2:p.Val1548=
XM_011514298.1:c.4055T= XP_011512600.1:p.Val1352=
XM_011514299.1:c.4187T= XP_011512601.1:p.Val1396=
XM_011514300.1:c.4007T= XP_011512602.1:p.Val1336=
XM_011514301.1:c.3944T= XP_011512603.1:p.Val1315=
XM_011514302.1:c.3788T= XP_011512604.1:p.Val1263=
XM_011514299.2:c.4187T= XP_011512601.1:p.Val1396=
XM_011514300.2:c.4007T= XP_011512602.1:p.Val1336=
XM_011514302.2:c.3788T= XP_011512604.1:p.Val1263=
XM_017010250.1:c.4901T= XP_016865739.1:p.Val1634=
XM_017010251.2:c.3719T= XP_016865740.1:p.Val1240=
NM_080680.3:c.4901T= MANE Select NP_542411.2:p.Val1634=
NM_080681.3:c.4643T= NP_542412.2:p.Val1548=
NM_080679.3:c.4580T= NP_542410.2:p.Val1527=