Canonical Allele Identifier: CA138634

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 46568
• ClinVar RCV Id: RCV000039838 ; RCV000299712 ; RCV000406227 ; RCV000348811 ; RCV000354095 ; RCV001512133 ; RCV002277131
• dbSNP Id: rs2229792
• ExAC: 6:33131501 G / A
• gnomAD v2: 6-33131501-G-A
• gnomAD v3: 6-33163724-G-A
• gnomAD v4: 6-33163724-G-A
• MyVariant Identifiers: chr6:g.33131501G>A (hg19) ; chr6:g.33163724G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33163724G>A , CM000668.2:g.33163724G>A	GRCh38
NC_000006.11:g.33131501G>A , CM000668.1:g.33131501G>A	GRCh37
NC_000006.10:g.33239479G>A	NCBI36
NG_011589.1:g.33745C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.971C>T
ENST00000341947.7:c.5165C>T MANE Select	ENSP00000339915.2:p.Pro1722Leu
ENST00000341947.6:c.5165C>T	ENSP00000339915.2:p.Pro1722Leu
ENST00000361917.5:c.4844C>T	ENSP00000355123.1:p.Pro1615Leu
ENST00000374708.8:c.4907C>T	ENSP00000363840.4:p.Pro1636Leu
ENST00000477772.1:n.955C>T
NM_080679.2:c.4844C>T	NP_542410.2:p.Pro1615Leu
NM_080680.2:c.5165C>T	NP_542411.2:p.Pro1722Leu
NM_080681.2:c.4907C>T	NP_542412.2:p.Pro1636Leu
XM_011514298.1:c.4319C>T	XP_011512600.1:p.Pro1440Leu
XM_011514299.1:c.4451C>T	XP_011512601.1:p.Pro1484Leu
XM_011514300.1:c.4271C>T	XP_011512602.1:p.Pro1424Leu
XM_011514301.1:c.4208C>T	XP_011512603.1:p.Pro1403Leu
XM_011514302.1:c.4052C>T	XP_011512604.1:p.Pro1351Leu
XM_011514299.2:c.4451C>T	XP_011512601.1:p.Pro1484Leu
XM_011514300.2:c.4271C>T	XP_011512602.1:p.Pro1424Leu
XM_011514302.2:c.4052C>T	XP_011512604.1:p.Pro1351Leu
XM_017010250.1:c.5165C>T	XP_016865739.1:p.Pro1722Leu
XM_017010251.2:c.3983C>T	XP_016865740.1:p.Pro1328Leu
NM_080680.3:c.5165C>T MANE Select	NP_542411.2:p.Pro1722Leu
NM_080681.3:c.4907C>T	NP_542412.2:p.Pro1636Leu
NM_080679.3:c.4844C>T	NP_542410.2:p.Pro1615Leu