Canonical Allele Identifier: CA449867068
Gene: COL11A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.33132221T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164444T>A , CM000668.2:g.33164444T>A GRCh38
NC_000006.11:g.33132221T>A , CM000668.1:g.33132221T>A GRCh37
NC_000006.10:g.33240199T>A NCBI36
NG_011589.1:g.33025A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.699A>T
ENST00000341947.7:c.4893A>T MANE Select ENSP00000339915.2:p.Pro1631=
ENST00000341947.6:c.4893A>T ENSP00000339915.2:p.Pro1631=
ENST00000361917.5:c.4572A>T ENSP00000355123.1:p.Pro1524=
ENST00000374708.8:c.4635A>T ENSP00000363840.4:p.Pro1545=
ENST00000477772.1:n.683A>T
NM_080679.2:c.4572A>T NP_542410.2:p.Pro1524=
NM_080680.2:c.4893A>T NP_542411.2:p.Pro1631=
NM_080681.2:c.4635A>T NP_542412.2:p.Pro1545=
XM_011514298.1:c.4047A>T XP_011512600.1:p.Pro1349=
XM_011514299.1:c.4179A>T XP_011512601.1:p.Pro1393=
XM_011514300.1:c.3999A>T XP_011512602.1:p.Pro1333=
XM_011514301.1:c.3936A>T XP_011512603.1:p.Pro1312=
XM_011514302.1:c.3780A>T XP_011512604.1:p.Pro1260=
XM_011514299.2:c.4179A>T XP_011512601.1:p.Pro1393=
XM_011514300.2:c.3999A>T XP_011512602.1:p.Pro1333=
XM_011514302.2:c.3780A>T XP_011512604.1:p.Pro1260=
XM_017010250.1:c.4893A>T XP_016865739.1:p.Pro1631=
XM_017010251.2:c.3711A>T XP_016865740.1:p.Pro1237=
NM_080680.3:c.4893A>T MANE Select NP_542411.2:p.Pro1631=
NM_080681.3:c.4635A>T NP_542412.2:p.Pro1545=
NM_080679.3:c.4572A>T NP_542410.2:p.Pro1524=