Canonical Allele Identifier: CA449867301

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132689A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164912A>C , CM000668.2:g.33164912A>C	GRCh38
NC_000006.11:g.33132689A>C , CM000668.1:g.33132689A>C	GRCh37
NC_000006.10:g.33240667A>C	NCBI36
NG_011589.1:g.32557T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.609T>G
ENST00000341947.7:c.4803T>G MANE Select	ENSP00000339915.2:p.Val1601=
ENST00000341947.6:c.4803T>G	ENSP00000339915.2:p.Val1601=
ENST00000361917.5:c.4482T>G	ENSP00000355123.1:p.Val1494=
ENST00000374708.8:c.4545T>G	ENSP00000363840.4:p.Val1515=
ENST00000477772.1:n.593T>G
NM_080679.2:c.4482T>G	NP_542410.2:p.Val1494=
NM_080680.2:c.4803T>G	NP_542411.2:p.Val1601=
NM_080681.2:c.4545T>G	NP_542412.2:p.Val1515=
XM_011514298.1:c.3957T>G	XP_011512600.1:p.Val1319=
XM_011514299.1:c.4089T>G	XP_011512601.1:p.Val1363=
XM_011514300.1:c.3909T>G	XP_011512602.1:p.Val1303=
XM_011514301.1:c.3846T>G	XP_011512603.1:p.Val1282=
XM_011514302.1:c.3690T>G	XP_011512604.1:p.Val1230=
XM_011514299.2:c.4089T>G	XP_011512601.1:p.Val1363=
XM_011514300.2:c.3909T>G	XP_011512602.1:p.Val1303=
XM_011514302.2:c.3690T>G	XP_011512604.1:p.Val1230=
XM_017010250.1:c.4803T>G	XP_016865739.1:p.Val1601=
XM_017010251.2:c.3621T>G	XP_016865740.1:p.Val1207=
NM_080680.3:c.4803T>G MANE Select	NP_542411.2:p.Val1601=
NM_080681.3:c.4545T>G	NP_542412.2:p.Val1515=
NM_080679.3:c.4482T>G	NP_542410.2:p.Val1494=