Canonical Allele Identifier: CA183322
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 178924
dbSNP Id: rs200947059

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164845C>T , CM000668.2:g.33164845C>T GRCh38
NC_000006.11:g.33132622C>T , CM000668.1:g.33132622C>T GRCh37
NC_000006.10:g.33240600C>T NCBI36
NG_011589.1:g.32624G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000341947.7:c.4863+7G>A MANE Select ENSP00000339915.2:p.=
ENST00000341947.6:c.4863+7G>A ENSP00000339915.2:p.=
ENST00000361917.5:c.4542+7G>A ENSP00000355123.1:p.=
ENST00000374708.8:c.4605+7G>A ENSP00000363840.4:p.=
ENST00000477772.1:n.653+7G>A
NM_080679.2:c.4542+7G>A NP_542410.2:p.=
NM_080680.2:c.4863+7G>A NP_542411.2:p.=
NM_080681.2:c.4605+7G>A NP_542412.2:p.=
XM_011514298.1:c.4017+7G>A XP_011512600.1:p.=
XM_011514299.1:c.4149+7G>A XP_011512601.1:p.=
XM_011514300.1:c.3969+7G>A XP_011512602.1:p.=
XM_011514301.1:c.3906+7G>A XP_011512603.1:p.=
XM_011514302.1:c.3750+7G>A XP_011512604.1:p.=
XM_011514299.2:c.4149+7G>A XP_011512601.1:p.=
XM_011514300.2:c.3969+7G>A XP_011512602.1:p.=
XM_011514302.2:c.3750+7G>A XP_011512604.1:p.=
XM_017010250.1:c.4863+7G>A XP_016865739.1:p.=
XM_017010251.2:c.3681+7G>A XP_016865740.1:p.=
NM_080680.3:c.4863+7G>A MANE Select NP_542411.2:p.=
NM_080681.3:c.4605+7G>A NP_542412.2:p.=
NM_080679.3:c.4542+7G>A NP_542410.2:p.=