Canonical Allele Identifier: CA449867269

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132653C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164876C>T , CM000668.2:g.33164876C>T	GRCh38
NC_000006.11:g.33132653C>T , CM000668.1:g.33132653C>T	GRCh37
NC_000006.10:g.33240631C>T	NCBI36
NG_011589.1:g.32593G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.645G>A
ENST00000341947.7:c.4839G>A MANE Select	ENSP00000339915.2:p.Val1613=
ENST00000341947.6:c.4839G>A	ENSP00000339915.2:p.Val1613=
ENST00000361917.5:c.4518G>A	ENSP00000355123.1:p.Val1506=
ENST00000374708.8:c.4581G>A	ENSP00000363840.4:p.Val1527=
ENST00000477772.1:n.629G>A
NM_080679.2:c.4518G>A	NP_542410.2:p.Val1506=
NM_080680.2:c.4839G>A	NP_542411.2:p.Val1613=
NM_080681.2:c.4581G>A	NP_542412.2:p.Val1527=
XM_011514298.1:c.3993G>A	XP_011512600.1:p.Val1331=
XM_011514299.1:c.4125G>A	XP_011512601.1:p.Val1375=
XM_011514300.1:c.3945G>A	XP_011512602.1:p.Val1315=
XM_011514301.1:c.3882G>A	XP_011512603.1:p.Val1294=
XM_011514302.1:c.3726G>A	XP_011512604.1:p.Val1242=
XM_011514299.2:c.4125G>A	XP_011512601.1:p.Val1375=
XM_011514300.2:c.3945G>A	XP_011512602.1:p.Val1315=
XM_011514302.2:c.3726G>A	XP_011512604.1:p.Val1242=
XM_017010250.1:c.4839G>A	XP_016865739.1:p.Val1613=
XM_017010251.2:c.3657G>A	XP_016865740.1:p.Val1219=
NM_080680.3:c.4839G>A MANE Select	NP_542411.2:p.Val1613=
NM_080681.3:c.4581G>A	NP_542412.2:p.Val1527=
NM_080679.3:c.4518G>A	NP_542410.2:p.Val1506=