Canonical Allele Identifier: CA1619889901
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164465G= , CM000668.2:g.33164465G= GRCh38
NC_000006.11:g.33132242G= , CM000668.1:g.33132242G= GRCh37
NC_000006.10:g.33240220G= NCBI36
NG_011589.1:g.33004C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.678C=
ENST00000341947.7:c.4872C= MANE Select ENSP00000339915.2:p.Tyr1624=
ENST00000341947.6:c.4872C= ENSP00000339915.2:p.Tyr1624=
ENST00000361917.5:c.4551C= ENSP00000355123.1:p.Tyr1517=
ENST00000374708.8:c.4614C= ENSP00000363840.4:p.Tyr1538=
ENST00000477772.1:n.662C=
NM_080679.2:c.4551C= NP_542410.2:p.Tyr1517=
NM_080680.2:c.4872C= NP_542411.2:p.Tyr1624=
NM_080681.2:c.4614C= NP_542412.2:p.Tyr1538=
XM_011514298.1:c.4026C= XP_011512600.1:p.Tyr1342=
XM_011514299.1:c.4158C= XP_011512601.1:p.Tyr1386=
XM_011514300.1:c.3978C= XP_011512602.1:p.Tyr1326=
XM_011514301.1:c.3915C= XP_011512603.1:p.Tyr1305=
XM_011514302.1:c.3759C= XP_011512604.1:p.Tyr1253=
XM_011514299.2:c.4158C= XP_011512601.1:p.Tyr1386=
XM_011514300.2:c.3978C= XP_011512602.1:p.Tyr1326=
XM_011514302.2:c.3759C= XP_011512604.1:p.Tyr1253=
XM_017010250.1:c.4872C= XP_016865739.1:p.Tyr1624=
XM_017010251.2:c.3690C= XP_016865740.1:p.Tyr1230=
NM_080680.3:c.4872C= MANE Select NP_542411.2:p.Tyr1624=
NM_080681.3:c.4614C= NP_542412.2:p.Tyr1538=
NM_080679.3:c.4551C= NP_542410.2:p.Tyr1517=