Canonical Allele Identifier: CA363617697

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132708G>C (hg19) ; chr6:g.33164931G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164931G>C , CM000668.2:g.33164931G>C	GRCh38
NC_000006.11:g.33132708G>C , CM000668.1:g.33132708G>C	GRCh37
NC_000006.10:g.33240686G>C	NCBI36
NG_011589.1:g.32538C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.590C>G
ENST00000341947.7:c.4784C>G MANE Select	ENSP00000339915.2:p.Ala1595Gly
ENST00000341947.6:c.4784C>G	ENSP00000339915.2:p.Ala1595Gly
ENST00000361917.5:c.4463C>G	ENSP00000355123.1:p.Ala1488Gly
ENST00000374708.8:c.4526C>G	ENSP00000363840.4:p.Ala1509Gly
ENST00000477772.1:n.574C>G
NM_080679.2:c.4463C>G	NP_542410.2:p.Ala1488Gly
NM_080680.2:c.4784C>G	NP_542411.2:p.Ala1595Gly
NM_080681.2:c.4526C>G	NP_542412.2:p.Ala1509Gly
XM_011514298.1:c.3938C>G	XP_011512600.1:p.Ala1313Gly
XM_011514299.1:c.4070C>G	XP_011512601.1:p.Ala1357Gly
XM_011514300.1:c.3890C>G	XP_011512602.1:p.Ala1297Gly
XM_011514301.1:c.3827C>G	XP_011512603.1:p.Ala1276Gly
XM_011514302.1:c.3671C>G	XP_011512604.1:p.Ala1224Gly
XM_011514299.2:c.4070C>G	XP_011512601.1:p.Ala1357Gly
XM_011514300.2:c.3890C>G	XP_011512602.1:p.Ala1297Gly
XM_011514302.2:c.3671C>G	XP_011512604.1:p.Ala1224Gly
XM_017010250.1:c.4784C>G	XP_016865739.1:p.Ala1595Gly
XM_017010251.2:c.3602C>G	XP_016865740.1:p.Ala1201Gly
NM_080680.3:c.4784C>G MANE Select	NP_542411.2:p.Ala1595Gly
NM_080681.3:c.4526C>G	NP_542412.2:p.Ala1509Gly
NM_080679.3:c.4463C>G	NP_542410.2:p.Ala1488Gly