Canonical Allele Identifier: CA3749985
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1170925
ClinVar RCV Id: RCV001523733
dbSNP Id: rs200099239
gnomAD v2: 6-33132632-C-T
gnomAD v3: 6-33164855-C-T
gnomAD v4: 6-33164855-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164855C>T , CM000668.2:g.33164855C>T GRCh38
NC_000006.11:g.33132632C>T , CM000668.1:g.33132632C>T GRCh37
NC_000006.10:g.33240610C>T NCBI36
NG_011589.1:g.32614G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000683572.1:n.666G>A
ENST00000341947.7:c.4860G>A MANE Select ENSP00000339915.2:p.Thr1620=
ENST00000341947.6:c.4860G>A ENSP00000339915.2:p.Thr1620=
ENST00000361917.5:c.4539G>A ENSP00000355123.1:p.Thr1513=
ENST00000374708.8:c.4602G>A ENSP00000363840.4:p.Thr1534=
ENST00000477772.1:n.650G>A
NM_080679.2:c.4539G>A NP_542410.2:p.Thr1513=
NM_080680.2:c.4860G>A NP_542411.2:p.Thr1620=
NM_080681.2:c.4602G>A NP_542412.2:p.Thr1534=
XM_011514298.1:c.4014G>A XP_011512600.1:p.Thr1338=
XM_011514299.1:c.4146G>A XP_011512601.1:p.Thr1382=
XM_011514300.1:c.3966G>A XP_011512602.1:p.Thr1322=
XM_011514301.1:c.3903G>A XP_011512603.1:p.Thr1301=
XM_011514302.1:c.3747G>A XP_011512604.1:p.Thr1249=
XM_011514299.2:c.4146G>A XP_011512601.1:p.Thr1382=
XM_011514300.2:c.3966G>A XP_011512602.1:p.Thr1322=
XM_011514302.2:c.3747G>A XP_011512604.1:p.Thr1249=
XM_017010250.1:c.4860G>A XP_016865739.1:p.Thr1620=
XM_017010251.2:c.3678G>A XP_016865740.1:p.Thr1226=
NM_080680.3:c.4860G>A MANE Select NP_542411.2:p.Thr1620=
NM_080681.3:c.4602G>A NP_542412.2:p.Thr1534=
NM_080679.3:c.4539G>A NP_542410.2:p.Thr1513=