Canonical Allele Identifier: CA363616296
Gene: COL11A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164388T>A , CM000668.2:g.33164388T>A GRCh38
NC_000006.11:g.33132165T>A , CM000668.1:g.33132165T>A GRCh37
NC_000006.10:g.33240143T>A NCBI36
NG_011589.1:g.33081A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.755A>T
ENST00000341947.7:c.4949A>T MANE Select ENSP00000339915.2:p.Asp1650Val
ENST00000341947.6:c.4949A>T ENSP00000339915.2:p.Asp1650Val
ENST00000361917.5:c.4628A>T ENSP00000355123.1:p.Asp1543Val
ENST00000374708.8:c.4691A>T ENSP00000363840.4:p.Asp1564Val
ENST00000477772.1:n.739A>T
NM_080679.2:c.4628A>T NP_542410.2:p.Asp1543Val
NM_080680.2:c.4949A>T NP_542411.2:p.Asp1650Val
NM_080681.2:c.4691A>T NP_542412.2:p.Asp1564Val
XM_011514298.1:c.4103A>T XP_011512600.1:p.Asp1368Val
XM_011514299.1:c.4235A>T XP_011512601.1:p.Asp1412Val
XM_011514300.1:c.4055A>T XP_011512602.1:p.Asp1352Val
XM_011514301.1:c.3992A>T XP_011512603.1:p.Asp1331Val
XM_011514302.1:c.3836A>T XP_011512604.1:p.Asp1279Val
XM_011514299.2:c.4235A>T XP_011512601.1:p.Asp1412Val
XM_011514300.2:c.4055A>T XP_011512602.1:p.Asp1352Val
XM_011514302.2:c.3836A>T XP_011512604.1:p.Asp1279Val
XM_017010250.1:c.4949A>T XP_016865739.1:p.Asp1650Val
XM_017010251.2:c.3767A>T XP_016865740.1:p.Asp1256Val
NM_080680.3:c.4949A>T MANE Select NP_542411.2:p.Asp1650Val
NM_080681.3:c.4691A>T NP_542412.2:p.Asp1564Val
NM_080679.3:c.4628A>T NP_542410.2:p.Asp1543Val