Canonical Allele Identifier: CA246955
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 198356
dbSNP Id: rs140017436
gnomAD v2: 6-33132155-G-A
gnomAD v3: 6-33164378-G-A
gnomAD v4: 6-33164378-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164378G>A , CM000668.2:g.33164378G>A GRCh38
NC_000006.11:g.33132155G>A , CM000668.1:g.33132155G>A GRCh37
NC_000006.10:g.33240133G>A NCBI36
NG_011589.1:g.33091C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.765C>T
ENST00000341947.7:c.4959C>T MANE Select ENSP00000339915.2:p.Tyr1653=
ENST00000341947.6:c.4959C>T ENSP00000339915.2:p.Tyr1653=
ENST00000361917.5:c.4638C>T ENSP00000355123.1:p.Tyr1546=
ENST00000374708.8:c.4701C>T ENSP00000363840.4:p.Tyr1567=
ENST00000477772.1:n.749C>T
NM_080679.2:c.4638C>T NP_542410.2:p.Tyr1546=
NM_080680.2:c.4959C>T NP_542411.2:p.Tyr1653=
NM_080681.2:c.4701C>T NP_542412.2:p.Tyr1567=
XM_011514298.1:c.4113C>T XP_011512600.1:p.Tyr1371=
XM_011514299.1:c.4245C>T XP_011512601.1:p.Tyr1415=
XM_011514300.1:c.4065C>T XP_011512602.1:p.Tyr1355=
XM_011514301.1:c.4002C>T XP_011512603.1:p.Tyr1334=
XM_011514302.1:c.3846C>T XP_011512604.1:p.Tyr1282=
XM_011514299.2:c.4245C>T XP_011512601.1:p.Tyr1415=
XM_011514300.2:c.4065C>T XP_011512602.1:p.Tyr1355=
XM_011514302.2:c.3846C>T XP_011512604.1:p.Tyr1282=
XM_017010250.1:c.4959C>T XP_016865739.1:p.Tyr1653=
XM_017010251.2:c.3777C>T XP_016865740.1:p.Tyr1259=
NM_080680.3:c.4959C>T MANE Select NP_542411.2:p.Tyr1653=
NM_080681.3:c.4701C>T NP_542412.2:p.Tyr1567=
NM_080679.3:c.4638C>T NP_542410.2:p.Tyr1546=