Canonical Allele Identifier: CA363617448

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 2161737
• ClinVar RCV Id: RCV003078723
• gnomAD v4: 6-33164872-G-A
• MyVariant Identifiers: chr6:g.33132649G>A (hg19) ; chr6:g.33164872G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164872G>A , CM000668.2:g.33164872G>A	GRCh38
NC_000006.11:g.33132649G>A , CM000668.1:g.33132649G>A	GRCh37
NC_000006.10:g.33240627G>A	NCBI36
NG_011589.1:g.32597C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683572.1:n.649C>T
ENST00000341947.7:c.4843C>T MANE Select	ENSP00000339915.2:p.Pro1615Ser
ENST00000341947.6:c.4843C>T	ENSP00000339915.2:p.Pro1615Ser
ENST00000361917.5:c.4522C>T	ENSP00000355123.1:p.Pro1508Ser
ENST00000374708.8:c.4585C>T	ENSP00000363840.4:p.Pro1529Ser
ENST00000477772.1:n.633C>T
NM_080679.2:c.4522C>T	NP_542410.2:p.Pro1508Ser
NM_080680.2:c.4843C>T	NP_542411.2:p.Pro1615Ser
NM_080681.2:c.4585C>T	NP_542412.2:p.Pro1529Ser
XM_011514298.1:c.3997C>T	XP_011512600.1:p.Pro1333Ser
XM_011514299.1:c.4129C>T	XP_011512601.1:p.Pro1377Ser
XM_011514300.1:c.3949C>T	XP_011512602.1:p.Pro1317Ser
XM_011514301.1:c.3886C>T	XP_011512603.1:p.Pro1296Ser
XM_011514302.1:c.3730C>T	XP_011512604.1:p.Pro1244Ser
XM_011514299.2:c.4129C>T	XP_011512601.1:p.Pro1377Ser
XM_011514300.2:c.3949C>T	XP_011512602.1:p.Pro1317Ser
XM_011514302.2:c.3730C>T	XP_011512604.1:p.Pro1244Ser
XM_017010250.1:c.4843C>T	XP_016865739.1:p.Pro1615Ser
XM_017010251.2:c.3661C>T	XP_016865740.1:p.Pro1221Ser
NM_080680.3:c.4843C>T MANE Select	NP_542411.2:p.Pro1615Ser
NM_080681.3:c.4585C>T	NP_542412.2:p.Pro1529Ser
NM_080679.3:c.4522C>T	NP_542410.2:p.Pro1508Ser