Canonical Allele Identifier: CA449867302

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164915-T-A
• MyVariant Identifiers: chr6:g.33132692T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164915T>A , CM000668.2:g.33164915T>A	GRCh38
NC_000006.11:g.33132692T>A , CM000668.1:g.33132692T>A	GRCh37
NC_000006.10:g.33240670T>A	NCBI36
NG_011589.1:g.32554A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.606A>T
ENST00000341947.7:c.4800A>T MANE Select	ENSP00000339915.2:p.Arg1600=
ENST00000341947.6:c.4800A>T	ENSP00000339915.2:p.Arg1600=
ENST00000361917.5:c.4479A>T	ENSP00000355123.1:p.Arg1493=
ENST00000374708.8:c.4542A>T	ENSP00000363840.4:p.Arg1514=
ENST00000477772.1:n.590A>T
NM_080679.2:c.4479A>T	NP_542410.2:p.Arg1493=
NM_080680.2:c.4800A>T	NP_542411.2:p.Arg1600=
NM_080681.2:c.4542A>T	NP_542412.2:p.Arg1514=
XM_011514298.1:c.3954A>T	XP_011512600.1:p.Arg1318=
XM_011514299.1:c.4086A>T	XP_011512601.1:p.Arg1362=
XM_011514300.1:c.3906A>T	XP_011512602.1:p.Arg1302=
XM_011514301.1:c.3843A>T	XP_011512603.1:p.Arg1281=
XM_011514302.1:c.3687A>T	XP_011512604.1:p.Arg1229=
XM_011514299.2:c.4086A>T	XP_011512601.1:p.Arg1362=
XM_011514300.2:c.3906A>T	XP_011512602.1:p.Arg1302=
XM_011514302.2:c.3687A>T	XP_011512604.1:p.Arg1229=
XM_017010250.1:c.4800A>T	XP_016865739.1:p.Arg1600=
XM_017010251.2:c.3618A>T	XP_016865740.1:p.Arg1206=
NM_080680.3:c.4800A>T MANE Select	NP_542411.2:p.Arg1600=
NM_080681.3:c.4542A>T	NP_542412.2:p.Arg1514=
NM_080679.3:c.4479A>T	NP_542410.2:p.Arg1493=