Canonical Allele Identifier: CA363610524

Gene: COL11A2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33186771A>C , CM000668.2:g.33186771A>C	GRCh38
NC_000006.11:g.33154548A>C , CM000668.1:g.33154548A>C	GRCh37
NC_000006.10:g.33262526A>C	NCBI36
NG_011589.1:g.10698T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682718.1:n.471T>G
ENST00000341947.7:c.654T>G MANE Select	ENSP00000339915.2:p.Tyr218Ter
ENST00000341947.6:c.654T>G	ENSP00000339915.2:p.Tyr218Ter
ENST00000361917.5:c.654T>G	ENSP00000355123.1:p.Tyr218Ter
ENST00000374708.8:c.654T>G	ENSP00000363840.4:p.Tyr218Ter
ENST00000395194.1:c.654T>G	ENSP00000378620.1:p.Tyr218Ter
ENST00000457788.5:c.654T>G	ENSP00000405520.1:p.Tyr218Ter
NM_001163771.1:c.654T>G	NP_001157243.1:p.Tyr218Ter
NM_080679.2:c.654T>G	NP_542410.2:p.Tyr218Ter
NM_080680.2:c.654T>G	NP_542411.2:p.Tyr218Ter
NM_080681.2:c.654T>G	NP_542412.2:p.Tyr218Ter
XM_011514298.1:c.-193T>G	XP_011512600.1:n.-193T>G
XM_017010250.1:c.654T>G	XP_016865739.1:p.Tyr218Ter
NM_001163771.2:c.654T>G	NP_001157243.1:p.Tyr218Ter
NM_080680.3:c.654T>G MANE Select	NP_542411.2:p.Tyr218Ter
NM_080681.3:c.654T>G	NP_542412.2:p.Tyr218Ter
NM_080679.3:c.654T>G	NP_542410.2:p.Tyr218Ter