Canonical Allele Identifier: CA449867056

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164432-G-A
• MyVariant Identifiers: chr6:g.33132209G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164432G>A , CM000668.2:g.33164432G>A	GRCh38
NC_000006.11:g.33132209G>A , CM000668.1:g.33132209G>A	GRCh37
NC_000006.10:g.33240187G>A	NCBI36
NG_011589.1:g.33037C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.711C>T
ENST00000341947.7:c.4905C>T MANE Select	ENSP00000339915.2:p.Val1635=
ENST00000341947.6:c.4905C>T	ENSP00000339915.2:p.Val1635=
ENST00000361917.5:c.4584C>T	ENSP00000355123.1:p.Val1528=
ENST00000374708.8:c.4647C>T	ENSP00000363840.4:p.Val1549=
ENST00000477772.1:n.695C>T
NM_080679.2:c.4584C>T	NP_542410.2:p.Val1528=
NM_080680.2:c.4905C>T	NP_542411.2:p.Val1635=
NM_080681.2:c.4647C>T	NP_542412.2:p.Val1549=
XM_011514298.1:c.4059C>T	XP_011512600.1:p.Val1353=
XM_011514299.1:c.4191C>T	XP_011512601.1:p.Val1397=
XM_011514300.1:c.4011C>T	XP_011512602.1:p.Val1337=
XM_011514301.1:c.3948C>T	XP_011512603.1:p.Val1316=
XM_011514302.1:c.3792C>T	XP_011512604.1:p.Val1264=
XM_011514299.2:c.4191C>T	XP_011512601.1:p.Val1397=
XM_011514300.2:c.4011C>T	XP_011512602.1:p.Val1337=
XM_011514302.2:c.3792C>T	XP_011512604.1:p.Val1264=
XM_017010250.1:c.4905C>T	XP_016865739.1:p.Val1635=
XM_017010251.2:c.3723C>T	XP_016865740.1:p.Val1241=
NM_080680.3:c.4905C>T MANE Select	NP_542411.2:p.Val1635=
NM_080681.3:c.4647C>T	NP_542412.2:p.Val1549=
NM_080679.3:c.4584C>T	NP_542410.2:p.Val1528=