Canonical Allele Identifier: CA1619889834
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164433A= , CM000668.2:g.33164433A= GRCh38
NC_000006.11:g.33132210A= , CM000668.1:g.33132210A= GRCh37
NC_000006.10:g.33240188A= NCBI36
NG_011589.1:g.33036T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.710T=
ENST00000341947.7:c.4904T= MANE Select ENSP00000339915.2:p.Val1635=
ENST00000341947.6:c.4904T= ENSP00000339915.2:p.Val1635=
ENST00000361917.5:c.4583T= ENSP00000355123.1:p.Val1528=
ENST00000374708.8:c.4646T= ENSP00000363840.4:p.Val1549=
ENST00000477772.1:n.694T=
NM_080679.2:c.4583T= NP_542410.2:p.Val1528=
NM_080680.2:c.4904T= NP_542411.2:p.Val1635=
NM_080681.2:c.4646T= NP_542412.2:p.Val1549=
XM_011514298.1:c.4058T= XP_011512600.1:p.Val1353=
XM_011514299.1:c.4190T= XP_011512601.1:p.Val1397=
XM_011514300.1:c.4010T= XP_011512602.1:p.Val1337=
XM_011514301.1:c.3947T= XP_011512603.1:p.Val1316=
XM_011514302.1:c.3791T= XP_011512604.1:p.Val1264=
XM_011514299.2:c.4190T= XP_011512601.1:p.Val1397=
XM_011514300.2:c.4010T= XP_011512602.1:p.Val1337=
XM_011514302.2:c.3791T= XP_011512604.1:p.Val1264=
XM_017010250.1:c.4904T= XP_016865739.1:p.Val1635=
XM_017010251.2:c.3722T= XP_016865740.1:p.Val1241=
NM_080680.3:c.4904T= MANE Select NP_542411.2:p.Val1635=
NM_080681.3:c.4646T= NP_542412.2:p.Val1549=
NM_080679.3:c.4583T= NP_542410.2:p.Val1528=