Canonical Allele Identifier: CA363616149

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164359-G-C
• MyVariant Identifiers: chr6:g.33132136G>C (hg19) ; chr6:g.33164359G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164359G>C , CM000668.2:g.33164359G>C	GRCh38
NC_000006.11:g.33132136G>C , CM000668.1:g.33132136G>C	GRCh37
NC_000006.10:g.33240114G>C	NCBI36
NG_011589.1:g.33110C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.784C>G
ENST00000341947.7:c.4978C>G MANE Select	ENSP00000339915.2:p.Arg1660Gly
ENST00000341947.6:c.4978C>G	ENSP00000339915.2:p.Arg1660Gly
ENST00000361917.5:c.4657C>G	ENSP00000355123.1:p.Arg1553Gly
ENST00000374708.8:c.4720C>G	ENSP00000363840.4:p.Arg1574Gly
ENST00000477772.1:n.768C>G
NM_080679.2:c.4657C>G	NP_542410.2:p.Arg1553Gly
NM_080680.2:c.4978C>G	NP_542411.2:p.Arg1660Gly
NM_080681.2:c.4720C>G	NP_542412.2:p.Arg1574Gly
XM_011514298.1:c.4132C>G	XP_011512600.1:p.Arg1378Gly
XM_011514299.1:c.4264C>G	XP_011512601.1:p.Arg1422Gly
XM_011514300.1:c.4084C>G	XP_011512602.1:p.Arg1362Gly
XM_011514301.1:c.4021C>G	XP_011512603.1:p.Arg1341Gly
XM_011514302.1:c.3865C>G	XP_011512604.1:p.Arg1289Gly
XM_011514299.2:c.4264C>G	XP_011512601.1:p.Arg1422Gly
XM_011514300.2:c.4084C>G	XP_011512602.1:p.Arg1362Gly
XM_011514302.2:c.3865C>G	XP_011512604.1:p.Arg1289Gly
XM_017010250.1:c.4978C>G	XP_016865739.1:p.Arg1660Gly
XM_017010251.2:c.3796C>G	XP_016865740.1:p.Arg1266Gly
NM_080680.3:c.4978C>G MANE Select	NP_542411.2:p.Arg1660Gly
NM_080681.3:c.4720C>G	NP_542412.2:p.Arg1574Gly
NM_080679.3:c.4657C>G	NP_542410.2:p.Arg1553Gly