Canonical Allele Identifier: CA1619890626
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164957G= , CM000668.2:g.33164957G= GRCh38
NC_000006.11:g.33132734G= , CM000668.1:g.33132734G= GRCh37
NC_000006.10:g.33240712G= NCBI36
NG_011589.1:g.32512C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.564C=
ENST00000341947.7:c.4758C= MANE Select ENSP00000339915.2:p.Tyr1586=
ENST00000341947.6:c.4758C= ENSP00000339915.2:p.Tyr1586=
ENST00000361917.5:c.4437C= ENSP00000355123.1:p.Tyr1479=
ENST00000374708.8:c.4500C= ENSP00000363840.4:p.Tyr1500=
ENST00000477772.1:n.548C=
NM_080679.2:c.4437C= NP_542410.2:p.Tyr1479=
NM_080680.2:c.4758C= NP_542411.2:p.Tyr1586=
NM_080681.2:c.4500C= NP_542412.2:p.Tyr1500=
XM_011514298.1:c.3912C= XP_011512600.1:p.Tyr1304=
XM_011514299.1:c.4044C= XP_011512601.1:p.Tyr1348=
XM_011514300.1:c.3864C= XP_011512602.1:p.Tyr1288=
XM_011514301.1:c.3801C= XP_011512603.1:p.Tyr1267=
XM_011514302.1:c.3645C= XP_011512604.1:p.Tyr1215=
XM_011514299.2:c.4044C= XP_011512601.1:p.Tyr1348=
XM_011514300.2:c.3864C= XP_011512602.1:p.Tyr1288=
XM_011514302.2:c.3645C= XP_011512604.1:p.Tyr1215=
XM_017010250.1:c.4758C= XP_016865739.1:p.Tyr1586=
XM_017010251.2:c.3576C= XP_016865740.1:p.Tyr1192=
NM_080680.3:c.4758C= MANE Select NP_542411.2:p.Tyr1586=
NM_080681.3:c.4500C= NP_542412.2:p.Tyr1500=
NM_080679.3:c.4437C= NP_542410.2:p.Tyr1479=