Canonical Allele Identifier: CA363616146

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132136G>T (hg19) ; chr6:g.33164359G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.784C>A
ENST00000341947.7:c.4978C>A MANE Select	ENSP00000339915.2:p.Arg1660Ser
ENST00000341947.6:c.4978C>A	ENSP00000339915.2:p.Arg1660Ser
ENST00000361917.5:c.4657C>A	ENSP00000355123.1:p.Arg1553Ser
ENST00000374708.8:c.4720C>A	ENSP00000363840.4:p.Arg1574Ser
ENST00000477772.1:n.768C>A
NM_080679.2:c.4657C>A	NP_542410.2:p.Arg1553Ser
NM_080680.2:c.4978C>A	NP_542411.2:p.Arg1660Ser
NM_080681.2:c.4720C>A	NP_542412.2:p.Arg1574Ser
XM_011514298.1:c.4132C>A	XP_011512600.1:p.Arg1378Ser
XM_011514299.1:c.4264C>A	XP_011512601.1:p.Arg1422Ser
XM_011514300.1:c.4084C>A	XP_011512602.1:p.Arg1362Ser
XM_011514301.1:c.4021C>A	XP_011512603.1:p.Arg1341Ser
XM_011514302.1:c.3865C>A	XP_011512604.1:p.Arg1289Ser
XM_011514299.2:c.4264C>A	XP_011512601.1:p.Arg1422Ser
XM_011514300.2:c.4084C>A	XP_011512602.1:p.Arg1362Ser
XM_011514302.2:c.3865C>A	XP_011512604.1:p.Arg1289Ser
XM_017010250.1:c.4978C>A	XP_016865739.1:p.Arg1660Ser
XM_017010251.2:c.3796C>A	XP_016865740.1:p.Arg1266Ser
NM_080680.3:c.4978C>A MANE Select	NP_542411.2:p.Arg1660Ser
NM_080681.3:c.4720C>A	NP_542412.2:p.Arg1574Ser
NM_080679.3:c.4657C>A	NP_542410.2:p.Arg1553Ser