Canonical Allele Identifier: CA449878061

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33171563-G-T
• MyVariant Identifiers: chr6:g.33139340G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171563G>T , CM000668.2:g.33171563G>T	GRCh38
NC_000006.11:g.33139340G>T , CM000668.1:g.33139340G>T	GRCh37
NC_000006.10:g.33247318G>T	NCBI36
NG_011589.1:g.25906C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000341947.7:c.3162C>A MANE Select	ENSP00000339915.2:p.Gly1054=
ENST00000341947.6:c.3162C>A	ENSP00000339915.2:p.Gly1054=
ENST00000361917.5:c.2841C>A	ENSP00000355123.1:p.Gly947=
ENST00000374708.8:c.2904C>A	ENSP00000363840.4:p.Gly968=
ENST00000477772.1:n.272+5446C>A
NM_080679.2:c.2841C>A	NP_542410.2:p.Gly947=
NM_080680.2:c.3162C>A	NP_542411.2:p.Gly1054=
NM_080681.2:c.2904C>A	NP_542412.2:p.Gly968=
XM_011514298.1:c.2316C>A	XP_011512600.1:p.Gly772=
XM_011514299.1:c.2448C>A	XP_011512601.1:p.Gly816=
XM_011514300.1:c.2268C>A	XP_011512602.1:p.Gly756=
XM_011514301.1:c.2205C>A	XP_011512603.1:p.Gly735=
XM_011514302.1:c.2049C>A	XP_011512604.1:p.Gly683=
XM_011514299.2:c.2448C>A	XP_011512601.1:p.Gly816=
XM_011514300.2:c.2268C>A	XP_011512602.1:p.Gly756=
XM_011514302.2:c.2049C>A	XP_011512604.1:p.Gly683=
XM_017010250.1:c.3162C>A	XP_016865739.1:p.Gly1054=
XM_017010251.2:c.1980C>A	XP_016865740.1:p.Gly660=
NM_080680.3:c.3162C>A MANE Select	NP_542411.2:p.Gly1054=
NM_080681.3:c.2904C>A	NP_542412.2:p.Gly968=
NM_080679.3:c.2841C>A	NP_542410.2:p.Gly947=