Canonical Allele Identifier: CA3750325

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 356387
• ClinVar RCV Id: RCV000264819 ; RCV000323351 ; RCV000322375 ; RCV000383939 ; RCV001850899 ; RCV002487566
• dbSNP Id: rs758507327
• ExAC: 6:33136506 C / T
• gnomAD v2: 6-33136506-C-T
• gnomAD v3: 6-33168729-C-T
• gnomAD v4: 6-33168729-C-T
• MyVariant Identifiers: chr6:g.33136506C>T (hg19) ; chr6:g.33168729C>T (hg38)

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