Canonical Allele Identifier: CA449867065

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164441-C-A
• MyVariant Identifiers: chr6:g.33132218C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164441C>A , CM000668.2:g.33164441C>A	GRCh38
NC_000006.11:g.33132218C>A , CM000668.1:g.33132218C>A	GRCh37
NC_000006.10:g.33240196C>A	NCBI36
NG_011589.1:g.33028G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.702G>T
ENST00000341947.7:c.4896G>T MANE Select	ENSP00000339915.2:p.Val1632=
ENST00000341947.6:c.4896G>T	ENSP00000339915.2:p.Val1632=
ENST00000361917.5:c.4575G>T	ENSP00000355123.1:p.Val1525=
ENST00000374708.8:c.4638G>T	ENSP00000363840.4:p.Val1546=
ENST00000477772.1:n.686G>T
NM_080679.2:c.4575G>T	NP_542410.2:p.Val1525=
NM_080680.2:c.4896G>T	NP_542411.2:p.Val1632=
NM_080681.2:c.4638G>T	NP_542412.2:p.Val1546=
XM_011514298.1:c.4050G>T	XP_011512600.1:p.Val1350=
XM_011514299.1:c.4182G>T	XP_011512601.1:p.Val1394=
XM_011514300.1:c.4002G>T	XP_011512602.1:p.Val1334=
XM_011514301.1:c.3939G>T	XP_011512603.1:p.Val1313=
XM_011514302.1:c.3783G>T	XP_011512604.1:p.Val1261=
XM_011514299.2:c.4182G>T	XP_011512601.1:p.Val1394=
XM_011514300.2:c.4002G>T	XP_011512602.1:p.Val1334=
XM_011514302.2:c.3783G>T	XP_011512604.1:p.Val1261=
XM_017010250.1:c.4896G>T	XP_016865739.1:p.Val1632=
XM_017010251.2:c.3714G>T	XP_016865740.1:p.Val1238=
NM_080680.3:c.4896G>T MANE Select	NP_542411.2:p.Val1632=
NM_080681.3:c.4638G>T	NP_542412.2:p.Val1546=
NM_080679.3:c.4575G>T	NP_542410.2:p.Val1525=