Canonical Allele Identifier: CA449866961
Gene: COL11A2 HGNC NCBI

Linked Data

gnomAD v4: 6-33164351-A-T
MyVariant Identifiers: chr6:g.33132128A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164351A>T , CM000668.2:g.33164351A>T GRCh38
NC_000006.11:g.33132128A>T , CM000668.1:g.33132128A>T GRCh37
NC_000006.10:g.33240106A>T NCBI36
NG_011589.1:g.33118T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.792T>A
ENST00000341947.7:c.4986T>A MANE Select ENSP00000339915.2:p.Gly1662=
ENST00000341947.6:c.4986T>A ENSP00000339915.2:p.Gly1662=
ENST00000361917.5:c.4665T>A ENSP00000355123.1:p.Gly1555=
ENST00000374708.8:c.4728T>A ENSP00000363840.4:p.Gly1576=
ENST00000477772.1:n.776T>A
NM_080679.2:c.4665T>A NP_542410.2:p.Gly1555=
NM_080680.2:c.4986T>A NP_542411.2:p.Gly1662=
NM_080681.2:c.4728T>A NP_542412.2:p.Gly1576=
XM_011514298.1:c.4140T>A XP_011512600.1:p.Gly1380=
XM_011514299.1:c.4272T>A XP_011512601.1:p.Gly1424=
XM_011514300.1:c.4092T>A XP_011512602.1:p.Gly1364=
XM_011514301.1:c.4029T>A XP_011512603.1:p.Gly1343=
XM_011514302.1:c.3873T>A XP_011512604.1:p.Gly1291=
XM_011514299.2:c.4272T>A XP_011512601.1:p.Gly1424=
XM_011514300.2:c.4092T>A XP_011512602.1:p.Gly1364=
XM_011514302.2:c.3873T>A XP_011512604.1:p.Gly1291=
XM_017010250.1:c.4986T>A XP_016865739.1:p.Gly1662=
XM_017010251.2:c.3804T>A XP_016865740.1:p.Gly1268=
NM_080680.3:c.4986T>A MANE Select NP_542411.2:p.Gly1662=
NM_080681.3:c.4728T>A NP_542412.2:p.Gly1576=
NM_080679.3:c.4665T>A NP_542410.2:p.Gly1555=