Canonical Allele Identifier: CA363617391

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132636A>C (hg19) ; chr6:g.33164859A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164859A>C , CM000668.2:g.33164859A>C	GRCh38
NC_000006.11:g.33132636A>C , CM000668.1:g.33132636A>C	GRCh37
NC_000006.10:g.33240614A>C	NCBI36
NG_011589.1:g.32610T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000683572.1:n.662T>G
ENST00000341947.7:c.4856T>G MANE Select	ENSP00000339915.2:p.Val1619Gly
ENST00000341947.6:c.4856T>G	ENSP00000339915.2:p.Val1619Gly
ENST00000361917.5:c.4535T>G	ENSP00000355123.1:p.Val1512Gly
ENST00000374708.8:c.4598T>G	ENSP00000363840.4:p.Val1533Gly
ENST00000477772.1:n.646T>G
NM_080679.2:c.4535T>G	NP_542410.2:p.Val1512Gly
NM_080680.2:c.4856T>G	NP_542411.2:p.Val1619Gly
NM_080681.2:c.4598T>G	NP_542412.2:p.Val1533Gly
XM_011514298.1:c.4010T>G	XP_011512600.1:p.Val1337Gly
XM_011514299.1:c.4142T>G	XP_011512601.1:p.Val1381Gly
XM_011514300.1:c.3962T>G	XP_011512602.1:p.Val1321Gly
XM_011514301.1:c.3899T>G	XP_011512603.1:p.Val1300Gly
XM_011514302.1:c.3743T>G	XP_011512604.1:p.Val1248Gly
XM_011514299.2:c.4142T>G	XP_011512601.1:p.Val1381Gly
XM_011514300.2:c.3962T>G	XP_011512602.1:p.Val1321Gly
XM_011514302.2:c.3743T>G	XP_011512604.1:p.Val1248Gly
XM_017010250.1:c.4856T>G	XP_016865739.1:p.Val1619Gly
XM_017010251.2:c.3674T>G	XP_016865740.1:p.Val1225Gly
NM_080680.3:c.4856T>G MANE Select	NP_542411.2:p.Val1619Gly
NM_080681.3:c.4598T>G	NP_542412.2:p.Val1533Gly
NM_080679.3:c.4535T>G	NP_542410.2:p.Val1512Gly