Canonical Allele Identifier: CA3751427

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 356407
• ClinVar RCV Id: RCV000289243 ; RCV000330126 ; RCV000383614 ; RCV000388187 ; RCV000506175 ; RCV001584080
• dbSNP Id: rs201179101
• ExAC: 6:33148754 G / A
• gnomAD v2: 6-33148754-G-A
• gnomAD v3: 6-33180977-G-A
• gnomAD v4: 6-33180977-G-A
• MyVariant Identifiers: chr6:g.33148754G>A (hg19) ; chr6:g.33180977G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33180977G>A , CM000668.2:g.33180977G>A	GRCh38
NC_000006.11:g.33148754G>A , CM000668.1:g.33148754G>A	GRCh37
NC_000006.10:g.33256732G>A	NCBI36
NG_011589.1:g.16492C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.1208C>T MANE Select	ENSP00000339915.2:p.Pro403Leu
ENST00000341947.6:c.1208C>T	ENSP00000339915.2:p.Pro403Leu
ENST00000361917.5:c.887C>T	ENSP00000355123.1:p.Pro296Leu
ENST00000374708.8:c.950C>T	ENSP00000363840.4:p.Pro317Leu
ENST00000457788.5:c.1208C>T	ENSP00000405520.1:p.Pro403Leu
NM_080679.2:c.887C>T	NP_542410.2:p.Pro296Leu
NM_080680.2:c.1208C>T	NP_542411.2:p.Pro403Leu
NM_080681.2:c.950C>T	NP_542412.2:p.Pro317Leu
XM_011514298.1:c.362C>T	XP_011512600.1:p.Pro121Leu
XM_011514299.1:c.494C>T	XP_011512601.1:p.Pro165Leu
XM_011514300.1:c.314C>T	XP_011512602.1:p.Pro105Leu
XM_011514301.1:c.251C>T	XP_011512603.1:p.Pro84Leu
XM_011514302.1:c.95C>T	XP_011512604.1:p.Pro32Leu
XM_011514299.2:c.494C>T	XP_011512601.1:p.Pro165Leu
XM_011514300.2:c.314C>T	XP_011512602.1:p.Pro105Leu
XM_011514302.2:c.95C>T	XP_011512604.1:p.Pro32Leu
XM_017010250.1:c.1208C>T	XP_016865739.1:p.Pro403Leu
XM_017010251.2:c.26C>T	XP_016865740.1:p.Pro9Leu
NM_080680.3:c.1208C>T MANE Select	NP_542411.2:p.Pro403Leu
NM_080681.3:c.950C>T	NP_542412.2:p.Pro317Leu
NM_080679.3:c.887C>T	NP_542410.2:p.Pro296Leu