Canonical Allele Identifier: CA363616632

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132240A>C (hg19) ; chr6:g.33164463A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164463A>C , CM000668.2:g.33164463A>C	GRCh38
NC_000006.11:g.33132240A>C , CM000668.1:g.33132240A>C	GRCh37
NC_000006.10:g.33240218A>C	NCBI36
NG_011589.1:g.33006T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.680T>G
ENST00000341947.7:c.4874T>G MANE Select	ENSP00000339915.2:p.Val1625Gly
ENST00000341947.6:c.4874T>G	ENSP00000339915.2:p.Val1625Gly
ENST00000361917.5:c.4553T>G	ENSP00000355123.1:p.Val1518Gly
ENST00000374708.8:c.4616T>G	ENSP00000363840.4:p.Val1539Gly
ENST00000477772.1:n.664T>G
NM_080679.2:c.4553T>G	NP_542410.2:p.Val1518Gly
NM_080680.2:c.4874T>G	NP_542411.2:p.Val1625Gly
NM_080681.2:c.4616T>G	NP_542412.2:p.Val1539Gly
XM_011514298.1:c.4028T>G	XP_011512600.1:p.Val1343Gly
XM_011514299.1:c.4160T>G	XP_011512601.1:p.Val1387Gly
XM_011514300.1:c.3980T>G	XP_011512602.1:p.Val1327Gly
XM_011514301.1:c.3917T>G	XP_011512603.1:p.Val1306Gly
XM_011514302.1:c.3761T>G	XP_011512604.1:p.Val1254Gly
XM_011514299.2:c.4160T>G	XP_011512601.1:p.Val1387Gly
XM_011514300.2:c.3980T>G	XP_011512602.1:p.Val1327Gly
XM_011514302.2:c.3761T>G	XP_011512604.1:p.Val1254Gly
XM_017010250.1:c.4874T>G	XP_016865739.1:p.Val1625Gly
XM_017010251.2:c.3692T>G	XP_016865740.1:p.Val1231Gly
NM_080680.3:c.4874T>G MANE Select	NP_542411.2:p.Val1625Gly
NM_080681.3:c.4616T>G	NP_542412.2:p.Val1539Gly
NM_080679.3:c.4553T>G	NP_542410.2:p.Val1518Gly