Canonical Allele Identifier: CA1619903419
Community Standard Title: NM_080680.3(COL11A2):c.654T= (p.Tyr218=)
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33186771A= , CM000668.2:g.33186771A= GRCh38
NC_000006.11:g.33154548A= , CM000668.1:g.33154548A= GRCh37
NC_000006.10:g.33262526A= NCBI36
NG_011589.1:g.10698T=

Transcript Alleles

HGVS Amino-acid Change
NM_080680.3:c.654T= MANE Select NP_542411.2:p.Tyr218=
ENST00000341947.7:c.654T= MANE Select ENSP00000339915.2:p.Tyr218=
NM_001163771.1:c.654T= NP_001157243.1:p.Tyr218=
NM_001163771.2:c.654T= NP_001157243.1:p.Tyr218=
NM_080679.2:c.654T= NP_542410.2:p.Tyr218=
NM_080679.3:c.654T= NP_542410.2:p.Tyr218=
NM_080680.2:c.654T= NP_542411.2:p.Tyr218=
NM_080681.2:c.654T= NP_542412.2:p.Tyr218=
NM_080681.3:c.654T= NP_542412.2:p.Tyr218=
ENST00000341947.6:c.654T= ENSP00000339915.2:p.Tyr218=
ENST00000361917.5:c.654T= ENSP00000355123.1:p.Tyr218=
ENST00000374708.8:c.654T= ENSP00000363840.4:p.Tyr218=
ENST00000395194.1:c.654T= ENSP00000378620.1:p.Tyr218=
ENST00000457788.5:c.654T= ENSP00000405520.1:p.Tyr218=
ENST00000682718.1:n.471T=
XM_011514298.1:c.-193T= XP_011512600.1:n.-193T=
XM_017010250.1:c.654T= XP_016865739.1:p.Tyr218=