Canonical Allele Identifier: CA363617620

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132690A>C (hg19) ; chr6:g.33164913A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164913A>C , CM000668.2:g.33164913A>C	GRCh38
NC_000006.11:g.33132690A>C , CM000668.1:g.33132690A>C	GRCh37
NC_000006.10:g.33240668A>C	NCBI36
NG_011589.1:g.32556T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.608T>G
ENST00000341947.7:c.4802T>G MANE Select	ENSP00000339915.2:p.Val1601Gly
ENST00000341947.6:c.4802T>G	ENSP00000339915.2:p.Val1601Gly
ENST00000361917.5:c.4481T>G	ENSP00000355123.1:p.Val1494Gly
ENST00000374708.8:c.4544T>G	ENSP00000363840.4:p.Val1515Gly
ENST00000477772.1:n.592T>G
NM_080679.2:c.4481T>G	NP_542410.2:p.Val1494Gly
NM_080680.2:c.4802T>G	NP_542411.2:p.Val1601Gly
NM_080681.2:c.4544T>G	NP_542412.2:p.Val1515Gly
XM_011514298.1:c.3956T>G	XP_011512600.1:p.Val1319Gly
XM_011514299.1:c.4088T>G	XP_011512601.1:p.Val1363Gly
XM_011514300.1:c.3908T>G	XP_011512602.1:p.Val1303Gly
XM_011514301.1:c.3845T>G	XP_011512603.1:p.Val1282Gly
XM_011514302.1:c.3689T>G	XP_011512604.1:p.Val1230Gly
XM_011514299.2:c.4088T>G	XP_011512601.1:p.Val1363Gly
XM_011514300.2:c.3908T>G	XP_011512602.1:p.Val1303Gly
XM_011514302.2:c.3689T>G	XP_011512604.1:p.Val1230Gly
XM_017010250.1:c.4802T>G	XP_016865739.1:p.Val1601Gly
XM_017010251.2:c.3620T>G	XP_016865740.1:p.Val1207Gly
NM_080680.3:c.4802T>G MANE Select	NP_542411.2:p.Val1601Gly
NM_080681.3:c.4544T>G	NP_542412.2:p.Val1515Gly
NM_080679.3:c.4481T>G	NP_542410.2:p.Val1494Gly