Canonical Allele Identifier: CA363617432

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 1064998
• ClinVar RCV Id: RCV001375282
• dbSNP Id: rs1366292773
• gnomAD v2: 6-33132645-C-A
• gnomAD v4: 6-33164868-C-A
• MyVariant Identifiers: chr6:g.33132645C>A (hg19) ; chr6:g.33164868C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164868C>A , CM000668.2:g.33164868C>A	GRCh38
NC_000006.11:g.33132645C>A , CM000668.1:g.33132645C>A	GRCh37
NC_000006.10:g.33240623C>A	NCBI36
NG_011589.1:g.32601G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683572.1:n.653G>T
ENST00000341947.7:c.4847G>T MANE Select	ENSP00000339915.2:p.Arg1616Met
ENST00000341947.6:c.4847G>T	ENSP00000339915.2:p.Arg1616Met
ENST00000361917.5:c.4526G>T	ENSP00000355123.1:p.Arg1509Met
ENST00000374708.8:c.4589G>T	ENSP00000363840.4:p.Arg1530Met
ENST00000477772.1:n.637G>T
NM_080679.2:c.4526G>T	NP_542410.2:p.Arg1509Met
NM_080680.2:c.4847G>T	NP_542411.2:p.Arg1616Met
NM_080681.2:c.4589G>T	NP_542412.2:p.Arg1530Met
XM_011514298.1:c.4001G>T	XP_011512600.1:p.Arg1334Met
XM_011514299.1:c.4133G>T	XP_011512601.1:p.Arg1378Met
XM_011514300.1:c.3953G>T	XP_011512602.1:p.Arg1318Met
XM_011514301.1:c.3890G>T	XP_011512603.1:p.Arg1297Met
XM_011514302.1:c.3734G>T	XP_011512604.1:p.Arg1245Met
XM_011514299.2:c.4133G>T	XP_011512601.1:p.Arg1378Met
XM_011514300.2:c.3953G>T	XP_011512602.1:p.Arg1318Met
XM_011514302.2:c.3734G>T	XP_011512604.1:p.Arg1245Met
XM_017010250.1:c.4847G>T	XP_016865739.1:p.Arg1616Met
XM_017010251.2:c.3665G>T	XP_016865740.1:p.Arg1222Met
NM_080680.3:c.4847G>T MANE Select	NP_542411.2:p.Arg1616Met
NM_080681.3:c.4589G>T	NP_542412.2:p.Arg1530Met
NM_080679.3:c.4526G>T	NP_542410.2:p.Arg1509Met