Canonical Allele Identifier: CA363616281

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 1371300
• ClinVar RCV Id: RCV001878928 ; RCV003348556
• dbSNP Id: rs766589324
• gnomAD v4: 6-33164386-C-A
• COSMIC: COSM3411000
• MyVariant Identifiers: chr6:g.33132163C>A (hg19) ; chr6:g.33164386C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164386C>A , CM000668.2:g.33164386C>A	GRCh38
NC_000006.11:g.33132163C>A , CM000668.1:g.33132163C>A	GRCh37
NC_000006.10:g.33240141C>A	NCBI36
NG_011589.1:g.33083G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.757G>T
ENST00000341947.7:c.4951G>T MANE Select	ENSP00000339915.2:p.Val1651Phe
ENST00000341947.6:c.4951G>T	ENSP00000339915.2:p.Val1651Phe
ENST00000361917.5:c.4630G>T	ENSP00000355123.1:p.Val1544Phe
ENST00000374708.8:c.4693G>T	ENSP00000363840.4:p.Val1565Phe
ENST00000477772.1:n.741G>T
NM_080679.2:c.4630G>T	NP_542410.2:p.Val1544Phe
NM_080680.2:c.4951G>T	NP_542411.2:p.Val1651Phe
NM_080681.2:c.4693G>T	NP_542412.2:p.Val1565Phe
XM_011514298.1:c.4105G>T	XP_011512600.1:p.Val1369Phe
XM_011514299.1:c.4237G>T	XP_011512601.1:p.Val1413Phe
XM_011514300.1:c.4057G>T	XP_011512602.1:p.Val1353Phe
XM_011514301.1:c.3994G>T	XP_011512603.1:p.Val1332Phe
XM_011514302.1:c.3838G>T	XP_011512604.1:p.Val1280Phe
XM_011514299.2:c.4237G>T	XP_011512601.1:p.Val1413Phe
XM_011514300.2:c.4057G>T	XP_011512602.1:p.Val1353Phe
XM_011514302.2:c.3838G>T	XP_011512604.1:p.Val1280Phe
XM_017010250.1:c.4951G>T	XP_016865739.1:p.Val1651Phe
XM_017010251.2:c.3769G>T	XP_016865740.1:p.Val1257Phe
NM_080680.3:c.4951G>T MANE Select	NP_542411.2:p.Val1651Phe
NM_080681.3:c.4693G>T	NP_542412.2:p.Val1565Phe
NM_080679.3:c.4630G>T	NP_542410.2:p.Val1544Phe