Canonical Allele Identifier: CA449867257
Gene: COL11A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.33132647A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164870A>T , CM000668.2:g.33164870A>T GRCh38
NC_000006.11:g.33132647A>T , CM000668.1:g.33132647A>T GRCh37
NC_000006.10:g.33240625A>T NCBI36
NG_011589.1:g.32599T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000683572.1:n.651T>A
ENST00000341947.7:c.4845T>A MANE Select ENSP00000339915.2:p.Pro1615=
ENST00000341947.6:c.4845T>A ENSP00000339915.2:p.Pro1615=
ENST00000361917.5:c.4524T>A ENSP00000355123.1:p.Pro1508=
ENST00000374708.8:c.4587T>A ENSP00000363840.4:p.Pro1529=
ENST00000477772.1:n.635T>A
NM_080679.2:c.4524T>A NP_542410.2:p.Pro1508=
NM_080680.2:c.4845T>A NP_542411.2:p.Pro1615=
NM_080681.2:c.4587T>A NP_542412.2:p.Pro1529=
XM_011514298.1:c.3999T>A XP_011512600.1:p.Pro1333=
XM_011514299.1:c.4131T>A XP_011512601.1:p.Pro1377=
XM_011514300.1:c.3951T>A XP_011512602.1:p.Pro1317=
XM_011514301.1:c.3888T>A XP_011512603.1:p.Pro1296=
XM_011514302.1:c.3732T>A XP_011512604.1:p.Pro1244=
XM_011514299.2:c.4131T>A XP_011512601.1:p.Pro1377=
XM_011514300.2:c.3951T>A XP_011512602.1:p.Pro1317=
XM_011514302.2:c.3732T>A XP_011512604.1:p.Pro1244=
XM_017010250.1:c.4845T>A XP_016865739.1:p.Pro1615=
XM_017010251.2:c.3663T>A XP_016865740.1:p.Pro1221=
NM_080680.3:c.4845T>A MANE Select NP_542411.2:p.Pro1615=
NM_080681.3:c.4587T>A NP_542412.2:p.Pro1529=
NM_080679.3:c.4524T>A NP_542410.2:p.Pro1508=