Canonical Allele Identifier: CA449867290

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132671T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164894T>A , CM000668.2:g.33164894T>A	GRCh38
NC_000006.11:g.33132671T>A , CM000668.1:g.33132671T>A	GRCh37
NC_000006.10:g.33240649T>A	NCBI36
NG_011589.1:g.32575A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.627A>T
ENST00000341947.7:c.4821A>T MANE Select	ENSP00000339915.2:p.Ala1607=
ENST00000341947.6:c.4821A>T	ENSP00000339915.2:p.Ala1607=
ENST00000361917.5:c.4500A>T	ENSP00000355123.1:p.Ala1500=
ENST00000374708.8:c.4563A>T	ENSP00000363840.4:p.Ala1521=
ENST00000477772.1:n.611A>T
NM_080679.2:c.4500A>T	NP_542410.2:p.Ala1500=
NM_080680.2:c.4821A>T	NP_542411.2:p.Ala1607=
NM_080681.2:c.4563A>T	NP_542412.2:p.Ala1521=
XM_011514298.1:c.3975A>T	XP_011512600.1:p.Ala1325=
XM_011514299.1:c.4107A>T	XP_011512601.1:p.Ala1369=
XM_011514300.1:c.3927A>T	XP_011512602.1:p.Ala1309=
XM_011514301.1:c.3864A>T	XP_011512603.1:p.Ala1288=
XM_011514302.1:c.3708A>T	XP_011512604.1:p.Ala1236=
XM_011514299.2:c.4107A>T	XP_011512601.1:p.Ala1369=
XM_011514300.2:c.3927A>T	XP_011512602.1:p.Ala1309=
XM_011514302.2:c.3708A>T	XP_011512604.1:p.Ala1236=
XM_017010250.1:c.4821A>T	XP_016865739.1:p.Ala1607=
XM_017010251.2:c.3639A>T	XP_016865740.1:p.Ala1213=
NM_080680.3:c.4821A>T MANE Select	NP_542411.2:p.Ala1607=
NM_080681.3:c.4563A>T	NP_542412.2:p.Ala1521=
NM_080679.3:c.4500A>T	NP_542410.2:p.Ala1500=