Canonical Allele Identifier: CA449866979

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164375-G-A
• MyVariant Identifiers: chr6:g.33132152G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164375G>A , CM000668.2:g.33164375G>A	GRCh38
NC_000006.11:g.33132152G>A , CM000668.1:g.33132152G>A	GRCh37
NC_000006.10:g.33240130G>A	NCBI36
NG_011589.1:g.33094C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.768C>T
ENST00000341947.7:c.4962C>T MANE Select	ENSP00000339915.2:p.Pro1654=
ENST00000341947.6:c.4962C>T	ENSP00000339915.2:p.Pro1654=
ENST00000361917.5:c.4641C>T	ENSP00000355123.1:p.Pro1547=
ENST00000374708.8:c.4704C>T	ENSP00000363840.4:p.Pro1568=
ENST00000477772.1:n.752C>T
NM_080679.2:c.4641C>T	NP_542410.2:p.Pro1547=
NM_080680.2:c.4962C>T	NP_542411.2:p.Pro1654=
NM_080681.2:c.4704C>T	NP_542412.2:p.Pro1568=
XM_011514298.1:c.4116C>T	XP_011512600.1:p.Pro1372=
XM_011514299.1:c.4248C>T	XP_011512601.1:p.Pro1416=
XM_011514300.1:c.4068C>T	XP_011512602.1:p.Pro1356=
XM_011514301.1:c.4005C>T	XP_011512603.1:p.Pro1335=
XM_011514302.1:c.3849C>T	XP_011512604.1:p.Pro1283=
XM_011514299.2:c.4248C>T	XP_011512601.1:p.Pro1416=
XM_011514300.2:c.4068C>T	XP_011512602.1:p.Pro1356=
XM_011514302.2:c.3849C>T	XP_011512604.1:p.Pro1283=
XM_017010250.1:c.4962C>T	XP_016865739.1:p.Pro1654=
XM_017010251.2:c.3780C>T	XP_016865740.1:p.Pro1260=
NM_080680.3:c.4962C>T MANE Select	NP_542411.2:p.Pro1654=
NM_080681.3:c.4704C>T	NP_542412.2:p.Pro1568=
NM_080679.3:c.4641C>T	NP_542410.2:p.Pro1547=