Canonical Allele Identifier: CA3750325

Gene: COL11A2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33168729C>T , CM000668.2:g.33168729C>T	GRCh38
NC_000006.11:g.33136506C>T , CM000668.1:g.33136506C>T	GRCh37
NC_000006.10:g.33244484C>T	NCBI36
NG_011589.1:g.28740G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3883G>A MANE Select	ENSP00000339915.2:p.Glu1295Lys
ENST00000341947.6:c.3883G>A	ENSP00000339915.2:p.Glu1295Lys
ENST00000361917.5:c.3562G>A	ENSP00000355123.1:p.Glu1188Lys
ENST00000374708.8:c.3625G>A	ENSP00000363840.4:p.Glu1209Lys
ENST00000477772.1:n.273-2913G>A
NM_080679.2:c.3562G>A	NP_542410.2:p.Glu1188Lys
NM_080680.2:c.3883G>A	NP_542411.2:p.Glu1295Lys
NM_080681.2:c.3625G>A	NP_542412.2:p.Glu1209Lys
XM_011514298.1:c.3037G>A	XP_011512600.1:p.Glu1013Lys
XM_011514299.1:c.3169G>A	XP_011512601.1:p.Glu1057Lys
XM_011514300.1:c.2989G>A	XP_011512602.1:p.Glu997Lys
XM_011514301.1:c.2926G>A	XP_011512603.1:p.Glu976Lys
XM_011514302.1:c.2770G>A	XP_011512604.1:p.Glu924Lys
XM_011514299.2:c.3169G>A	XP_011512601.1:p.Glu1057Lys
XM_011514300.2:c.2989G>A	XP_011512602.1:p.Glu997Lys
XM_011514302.2:c.2770G>A	XP_011512604.1:p.Glu924Lys
XM_017010250.1:c.3883G>A	XP_016865739.1:p.Glu1295Lys
XM_017010251.2:c.2701G>A	XP_016865740.1:p.Glu901Lys
NM_080680.3:c.3883G>A MANE Select	NP_542411.2:p.Glu1295Lys
NM_080681.3:c.3625G>A	NP_542412.2:p.Glu1209Lys
NM_080679.3:c.3562G>A	NP_542410.2:p.Glu1188Lys