Canonical Allele Identifier: CA212610
Gene: COL11A2 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33189443C>A , CM000668.2:g.33189443C>A GRCh38
NC_000006.11:g.33157220C>A , CM000668.1:g.33157220C>A GRCh37
NC_000006.10:g.33265198C>A NCBI36
NG_011589.1:g.8026G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000341947.7:c.109G>T MANE Select ENSP00000339915.2:p.Ala37Ser
ENST00000341947.6:c.109G>T ENSP00000339915.2:p.Ala37Ser
ENST00000361917.5:c.109G>T ENSP00000355123.1:p.Ala37Ser
ENST00000374708.8:c.109G>T ENSP00000363840.4:p.Ala37Ser
ENST00000395194.1:c.109G>T ENSP00000378620.1:p.Ala37Ser
ENST00000457788.5:c.109G>T ENSP00000405520.1:p.Ala37Ser
NM_001163771.1:c.109G>T NP_001157243.1:p.Ala37Ser
NM_080679.2:c.109G>T NP_542410.2:p.Ala37Ser
NM_080680.2:c.109G>T NP_542411.2:p.Ala37Ser
NM_080681.2:c.109G>T NP_542412.2:p.Ala37Ser
XM_011514298.1:c.-738G>T XP_011512600.1:n.-738G>T
XM_017010250.1:c.109G>T XP_016865739.1:p.Ala37Ser
NM_001163771.2:c.109G>T NP_001157243.1:p.Ala37Ser
NM_080680.3:c.109G>T MANE Select NP_542411.2:p.Ala37Ser
NM_080681.3:c.109G>T NP_542412.2:p.Ala37Ser
NM_080679.3:c.109G>T NP_542410.2:p.Ala37Ser