Canonical Allele Identifier: CA449867039

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164416-G-T
• MyVariant Identifiers: chr6:g.33132193G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164416G>T , CM000668.2:g.33164416G>T	GRCh38
NC_000006.11:g.33132193G>T , CM000668.1:g.33132193G>T	GRCh37
NC_000006.10:g.33240171G>T	NCBI36
NG_011589.1:g.33053C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.727C>A
ENST00000341947.7:c.4921C>A MANE Select	ENSP00000339915.2:p.Arg1641=
ENST00000341947.6:c.4921C>A	ENSP00000339915.2:p.Arg1641=
ENST00000361917.5:c.4600C>A	ENSP00000355123.1:p.Arg1534=
ENST00000374708.8:c.4663C>A	ENSP00000363840.4:p.Arg1555=
ENST00000477772.1:n.711C>A
NM_080679.2:c.4600C>A	NP_542410.2:p.Arg1534=
NM_080680.2:c.4921C>A	NP_542411.2:p.Arg1641=
NM_080681.2:c.4663C>A	NP_542412.2:p.Arg1555=
XM_011514298.1:c.4075C>A	XP_011512600.1:p.Arg1359=
XM_011514299.1:c.4207C>A	XP_011512601.1:p.Arg1403=
XM_011514300.1:c.4027C>A	XP_011512602.1:p.Arg1343=
XM_011514301.1:c.3964C>A	XP_011512603.1:p.Arg1322=
XM_011514302.1:c.3808C>A	XP_011512604.1:p.Arg1270=
XM_011514299.2:c.4207C>A	XP_011512601.1:p.Arg1403=
XM_011514300.2:c.4027C>A	XP_011512602.1:p.Arg1343=
XM_011514302.2:c.3808C>A	XP_011512604.1:p.Arg1270=
XM_017010250.1:c.4921C>A	XP_016865739.1:p.Arg1641=
XM_017010251.2:c.3739C>A	XP_016865740.1:p.Arg1247=
NM_080680.3:c.4921C>A MANE Select	NP_542411.2:p.Arg1641=
NM_080681.3:c.4663C>A	NP_542412.2:p.Arg1555=
NM_080679.3:c.4600C>A	NP_542410.2:p.Arg1534=