Canonical Allele Identifier: CA12189112
Gene: COL11A2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.33177592C>A
GRCh37 chr6:g.33145369C>A
gnomAD v2:
6:33145369 C / A
gnomAD v3:
6:33177592 C / A
gnomAD v4:
chr6-33177592-C-A
Joint Max Group AF 0.38327366 (SAS)
Genomes Max Group AF 0.36788407 (SAS)
Exomes Max Group AF 0.383417 (SAS)
ClinVar RCV:
RCV000834301
ClinVar Variation:
674972
dbSNP:
2076311
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33177592C>A , CM000668.2:g.33177592C>A GRCh38
NC_000006.11:g.33145369C>A , CM000668.1:g.33145369C>A GRCh37
NC_000006.10:g.33253347C>A NCBI36
NG_011589.1:g.19877G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361917.6:c.490+70G>T
ENST00000341947.7:c.1917+70G>T MANE Select ENSP00000339915.2:n.1917+70G>T
ENST00000341947.6:c.1917+70G>T ENSP00000339915.2:n.1917+70G>T
ENST00000361917.5:c.1596+70G>T ENSP00000355123.1:n.1596+70G>T
ENST00000374708.8:c.1659+70G>T ENSP00000363840.4:n.1659+70G>T
ENST00000477772.1:n.136+70G>T
NM_080679.2:c.1596+70G>T NP_542410.2:n.1596+70G>T
NM_080680.2:c.1917+70G>T NP_542411.2:n.1917+70G>T
NM_080681.2:c.1659+70G>T NP_542412.2:n.1659+70G>T
XM_011514298.1:c.1071+70G>T XP_011512600.1:n.1071+70G>T
XM_011514299.1:c.1203+70G>T XP_011512601.1:n.1203+70G>T
XM_011514300.1:c.1023+70G>T XP_011512602.1:n.1023+70G>T
XM_011514301.1:c.960+70G>T XP_011512603.1:n.960+70G>T
XM_011514302.1:c.804+70G>T XP_011512604.1:n.804+70G>T
XM_011514299.2:c.1203+70G>T XP_011512601.1:n.1203+70G>T
XM_011514300.2:c.1023+70G>T XP_011512602.1:n.1023+70G>T
XM_011514302.2:c.804+70G>T XP_011512604.1:n.804+70G>T
XM_017010250.1:c.1917+70G>T XP_016865739.1:n.1917+70G>T
XM_017010251.2:c.735+70G>T XP_016865740.1:n.735+70G>T
NM_080680.3:c.1917+70G>T MANE Select NP_542411.2:n.1917+70G>T
NM_080681.3:c.1659+70G>T NP_542412.2:n.1659+70G>T
NM_080679.3:c.1596+70G>T NP_542410.2:n.1596+70G>T
Search 100 bp 5'
Search 100 bp 3'