Canonical Allele Identifier: CA3750551
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 356393
dbSNP Id: rs141164483
gnomAD v2: 6-33138929-G-A
gnomAD v3: 6-33171152-G-A
gnomAD v4: 6-33171152-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33171152G>A , CM000668.2:g.33171152G>A GRCh38
NC_000006.11:g.33138929G>A , CM000668.1:g.33138929G>A GRCh37
NC_000006.10:g.33246907G>A NCBI36
NG_011589.1:g.26317C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000341947.7:c.3328C>T MANE Select ENSP00000339915.2:p.Pro1110Ser
ENST00000341947.6:c.3328C>T ENSP00000339915.2:p.Pro1110Ser
ENST00000361917.5:c.3007C>T ENSP00000355123.1:p.Pro1003Ser
ENST00000374708.8:c.3070C>T ENSP00000363840.4:p.Pro1024Ser
ENST00000477772.1:n.273-5336C>T
NM_080679.2:c.3007C>T NP_542410.2:p.Pro1003Ser
NM_080680.2:c.3328C>T NP_542411.2:p.Pro1110Ser
NM_080681.2:c.3070C>T NP_542412.2:p.Pro1024Ser
XM_011514298.1:c.2482C>T XP_011512600.1:p.Pro828Ser
XM_011514299.1:c.2614C>T XP_011512601.1:p.Pro872Ser
XM_011514300.1:c.2434C>T XP_011512602.1:p.Pro812Ser
XM_011514301.1:c.2371C>T XP_011512603.1:p.Pro791Ser
XM_011514302.1:c.2215C>T XP_011512604.1:p.Pro739Ser
XM_011514299.2:c.2614C>T XP_011512601.1:p.Pro872Ser
XM_011514300.2:c.2434C>T XP_011512602.1:p.Pro812Ser
XM_011514302.2:c.2215C>T XP_011512604.1:p.Pro739Ser
XM_017010250.1:c.3328C>T XP_016865739.1:p.Pro1110Ser
XM_017010251.2:c.2146C>T XP_016865740.1:p.Pro716Ser
NM_080680.3:c.3328C>T MANE Select NP_542411.2:p.Pro1110Ser
NM_080681.3:c.3070C>T NP_542412.2:p.Pro1024Ser
NM_080679.3:c.3007C>T NP_542410.2:p.Pro1003Ser