Canonical Allele Identifier: CA363617691

Gene: COL11A2

Linked Data

• dbSNP Id: rs778962979
• gnomAD v2: 6-33132706-G-C
• gnomAD v4: 6-33164929-G-C
• MyVariant Identifiers: chr6:g.33132706G>C (hg19) ; chr6:g.33164929G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164929G>C , CM000668.2:g.33164929G>C	GRCh38
NC_000006.11:g.33132706G>C , CM000668.1:g.33132706G>C	GRCh37
NC_000006.10:g.33240684G>C	NCBI36
NG_011589.1:g.32540C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.592C>G
ENST00000341947.7:c.4786C>G MANE Select	ENSP00000339915.2:p.Arg1596Gly
ENST00000341947.6:c.4786C>G	ENSP00000339915.2:p.Arg1596Gly
ENST00000361917.5:c.4465C>G	ENSP00000355123.1:p.Arg1489Gly
ENST00000374708.8:c.4528C>G	ENSP00000363840.4:p.Arg1510Gly
ENST00000477772.1:n.576C>G
NM_080679.2:c.4465C>G	NP_542410.2:p.Arg1489Gly
NM_080680.2:c.4786C>G	NP_542411.2:p.Arg1596Gly
NM_080681.2:c.4528C>G	NP_542412.2:p.Arg1510Gly
XM_011514298.1:c.3940C>G	XP_011512600.1:p.Arg1314Gly
XM_011514299.1:c.4072C>G	XP_011512601.1:p.Arg1358Gly
XM_011514300.1:c.3892C>G	XP_011512602.1:p.Arg1298Gly
XM_011514301.1:c.3829C>G	XP_011512603.1:p.Arg1277Gly
XM_011514302.1:c.3673C>G	XP_011512604.1:p.Arg1225Gly
XM_011514299.2:c.4072C>G	XP_011512601.1:p.Arg1358Gly
XM_011514300.2:c.3892C>G	XP_011512602.1:p.Arg1298Gly
XM_011514302.2:c.3673C>G	XP_011512604.1:p.Arg1225Gly
XM_017010250.1:c.4786C>G	XP_016865739.1:p.Arg1596Gly
XM_017010251.2:c.3604C>G	XP_016865740.1:p.Arg1202Gly
NM_080680.3:c.4786C>G MANE Select	NP_542411.2:p.Arg1596Gly
NM_080681.3:c.4528C>G	NP_542412.2:p.Arg1510Gly
NM_080679.3:c.4465C>G	NP_542410.2:p.Arg1489Gly