Canonical Allele Identifier: CA3750150

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 356385
• ClinVar RCV Id: RCV000270610 ; RCV000274889 ; RCV000314799 ; RCV000367177 ; RCV000599954 ; RCV000835717
• dbSNP Id: rs555936333
• ExAC: 6:33134570 G / A
• gnomAD v2: 6-33134570-G-A
• gnomAD v3: 6-33166793-G-A
• gnomAD v4: 6-33166793-G-A
• MyVariant Identifiers: chr6:g.33134570G>A (hg19) ; chr6:g.33166793G>A (hg38)
• PubMed: PMID:22938506 ; PMID:23967202

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33166793G>A , CM000668.2:g.33166793G>A	GRCh38
NC_000006.11:g.33134570G>A , CM000668.1:g.33134570G>A	GRCh37
NC_000006.10:g.33242548G>A	NCBI36
NG_011589.1:g.30676C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683572.1:n.232C>T
ENST00000341947.7:c.4265C>T MANE Select	ENSP00000339915.2:p.Pro1422Leu
ENST00000341947.6:c.4265C>T	ENSP00000339915.2:p.Pro1422Leu
ENST00000361917.5:c.3944C>T	ENSP00000355123.1:p.Pro1315Leu
ENST00000374708.8:c.4007C>T	ENSP00000363840.4:p.Pro1336Leu
ENST00000477772.1:n.273-977C>T
NM_080679.2:c.3944C>T	NP_542410.2:p.Pro1315Leu
NM_080680.2:c.4265C>T	NP_542411.2:p.Pro1422Leu
NM_080681.2:c.4007C>T	NP_542412.2:p.Pro1336Leu
XM_011514298.1:c.3419C>T	XP_011512600.1:p.Pro1140Leu
XM_011514299.1:c.3551C>T	XP_011512601.1:p.Pro1184Leu
XM_011514300.1:c.3371C>T	XP_011512602.1:p.Pro1124Leu
XM_011514301.1:c.3308C>T	XP_011512603.1:p.Pro1103Leu
XM_011514302.1:c.3152C>T	XP_011512604.1:p.Pro1051Leu
XM_011514299.2:c.3551C>T	XP_011512601.1:p.Pro1184Leu
XM_011514300.2:c.3371C>T	XP_011512602.1:p.Pro1124Leu
XM_011514302.2:c.3152C>T	XP_011512604.1:p.Pro1051Leu
XM_017010250.1:c.4265C>T	XP_016865739.1:p.Pro1422Leu
XM_017010251.2:c.3083C>T	XP_016865740.1:p.Pro1028Leu
NM_080680.3:c.4265C>T MANE Select	NP_542411.2:p.Pro1422Leu
NM_080681.3:c.4007C>T	NP_542412.2:p.Pro1336Leu
NM_080679.3:c.3944C>T	NP_542410.2:p.Pro1315Leu