Canonical Allele Identifier: CA363627895
Gene: COL11A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33169456G>C , CM000668.2:g.33169456G>C GRCh38
NC_000006.11:g.33137233G>C , CM000668.1:g.33137233G>C GRCh37
NC_000006.10:g.33245211G>C NCBI36
NG_011589.1:g.28013C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341947.7:c.3725C>G MANE Select ENSP00000339915.2:p.Ser1242Trp
ENST00000341947.6:c.3725C>G ENSP00000339915.2:p.Ser1242Trp
ENST00000361917.5:c.3404C>G ENSP00000355123.1:p.Ser1135Trp
ENST00000374708.8:c.3467C>G ENSP00000363840.4:p.Ser1156Trp
ENST00000477772.1:n.273-3640C>G
NM_080679.2:c.3404C>G NP_542410.2:p.Ser1135Trp
NM_080680.2:c.3725C>G NP_542411.2:p.Ser1242Trp
NM_080681.2:c.3467C>G NP_542412.2:p.Ser1156Trp
XM_011514298.1:c.2879C>G XP_011512600.1:p.Ser960Trp
XM_011514299.1:c.3011C>G XP_011512601.1:p.Ser1004Trp
XM_011514300.1:c.2831C>G XP_011512602.1:p.Ser944Trp
XM_011514301.1:c.2768C>G XP_011512603.1:p.Ser923Trp
XM_011514302.1:c.2612C>G XP_011512604.1:p.Ser871Trp
XM_011514299.2:c.3011C>G XP_011512601.1:p.Ser1004Trp
XM_011514300.2:c.2831C>G XP_011512602.1:p.Ser944Trp
XM_011514302.2:c.2612C>G XP_011512604.1:p.Ser871Trp
XM_017010250.1:c.3725C>G XP_016865739.1:p.Ser1242Trp
XM_017010251.2:c.2543C>G XP_016865740.1:p.Ser848Trp
NM_080680.3:c.3725C>G MANE Select NP_542411.2:p.Ser1242Trp
NM_080681.3:c.3467C>G NP_542412.2:p.Ser1156Trp
NM_080679.3:c.3404C>G NP_542410.2:p.Ser1135Trp