Canonical Allele Identifier: CA449867084

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164462-C-T
• MyVariant Identifiers: chr6:g.33132239C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164462C>T , CM000668.2:g.33164462C>T	GRCh38
NC_000006.11:g.33132239C>T , CM000668.1:g.33132239C>T	GRCh37
NC_000006.10:g.33240217C>T	NCBI36
NG_011589.1:g.33007G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.681G>A
ENST00000341947.7:c.4875G>A MANE Select	ENSP00000339915.2:p.Val1625=
ENST00000341947.6:c.4875G>A	ENSP00000339915.2:p.Val1625=
ENST00000361917.5:c.4554G>A	ENSP00000355123.1:p.Val1518=
ENST00000374708.8:c.4617G>A	ENSP00000363840.4:p.Val1539=
ENST00000477772.1:n.665G>A
NM_080679.2:c.4554G>A	NP_542410.2:p.Val1518=
NM_080680.2:c.4875G>A	NP_542411.2:p.Val1625=
NM_080681.2:c.4617G>A	NP_542412.2:p.Val1539=
XM_011514298.1:c.4029G>A	XP_011512600.1:p.Val1343=
XM_011514299.1:c.4161G>A	XP_011512601.1:p.Val1387=
XM_011514300.1:c.3981G>A	XP_011512602.1:p.Val1327=
XM_011514301.1:c.3918G>A	XP_011512603.1:p.Val1306=
XM_011514302.1:c.3762G>A	XP_011512604.1:p.Val1254=
XM_011514299.2:c.4161G>A	XP_011512601.1:p.Val1387=
XM_011514300.2:c.3981G>A	XP_011512602.1:p.Val1327=
XM_011514302.2:c.3762G>A	XP_011512604.1:p.Val1254=
XM_017010250.1:c.4875G>A	XP_016865739.1:p.Val1625=
XM_017010251.2:c.3693G>A	XP_016865740.1:p.Val1231=
NM_080680.3:c.4875G>A MANE Select	NP_542411.2:p.Val1625=
NM_080681.3:c.4617G>A	NP_542412.2:p.Val1539=
NM_080679.3:c.4554G>A	NP_542410.2:p.Val1518=