Canonical Allele Identifier: CA449872206

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33169482-G-T
• MyVariant Identifiers: chr6:g.33137259G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33169482G>T , CM000668.2:g.33169482G>T	GRCh38
NC_000006.11:g.33137259G>T , CM000668.1:g.33137259G>T	GRCh37
NC_000006.10:g.33245237G>T	NCBI36
NG_011589.1:g.27987C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3699C>A MANE Select	ENSP00000339915.2:p.Arg1233=
ENST00000341947.6:c.3699C>A	ENSP00000339915.2:p.Arg1233=
ENST00000361917.5:c.3378C>A	ENSP00000355123.1:p.Arg1126=
ENST00000374708.8:c.3441C>A	ENSP00000363840.4:p.Arg1147=
ENST00000477772.1:n.273-3666C>A
NM_080679.2:c.3378C>A	NP_542410.2:p.Arg1126=
NM_080680.2:c.3699C>A	NP_542411.2:p.Arg1233=
NM_080681.2:c.3441C>A	NP_542412.2:p.Arg1147=
XM_011514298.1:c.2853C>A	XP_011512600.1:p.Arg951=
XM_011514299.1:c.2985C>A	XP_011512601.1:p.Arg995=
XM_011514300.1:c.2805C>A	XP_011512602.1:p.Arg935=
XM_011514301.1:c.2742C>A	XP_011512603.1:p.Arg914=
XM_011514302.1:c.2586C>A	XP_011512604.1:p.Arg862=
XM_011514299.2:c.2985C>A	XP_011512601.1:p.Arg995=
XM_011514300.2:c.2805C>A	XP_011512602.1:p.Arg935=
XM_011514302.2:c.2586C>A	XP_011512604.1:p.Arg862=
XM_017010250.1:c.3699C>A	XP_016865739.1:p.Arg1233=
XM_017010251.2:c.2517C>A	XP_016865740.1:p.Arg839=
NM_080680.3:c.3699C>A MANE Select	NP_542411.2:p.Arg1233=
NM_080681.3:c.3441C>A	NP_542412.2:p.Arg1147=
NM_080679.3:c.3378C>A	NP_542410.2:p.Arg1126=