Canonical Allele Identifier: CA363644211

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 2190241
• ClinVar RCV Id: RCV002627964
• gnomAD v4: 6-33174546-G-A
• MyVariant Identifiers: chr6:g.33142323G>A (hg19) ; chr6:g.33174546G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174546G>A , CM000668.2:g.33174546G>A	GRCh38
NC_000006.11:g.33142323G>A , CM000668.1:g.33142323G>A	GRCh37
NC_000006.10:g.33250301G>A	NCBI36
NG_011589.1:g.22923C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.984C>T
ENST00000341947.7:c.2411C>T MANE Select	ENSP00000339915.2:p.Pro804Leu
ENST00000341947.6:c.2411C>T	ENSP00000339915.2:p.Pro804Leu
ENST00000361917.5:c.2090C>T	ENSP00000355123.1:p.Pro697Leu
ENST00000374708.8:c.2153C>T	ENSP00000363840.4:p.Pro718Leu
ENST00000477772.1:n.272+2463C>T
NM_080679.2:c.2090C>T	NP_542410.2:p.Pro697Leu
NM_080680.2:c.2411C>T	NP_542411.2:p.Pro804Leu
NM_080681.2:c.2153C>T	NP_542412.2:p.Pro718Leu
XM_011514298.1:c.1565C>T	XP_011512600.1:p.Pro522Leu
XM_011514299.1:c.1697C>T	XP_011512601.1:p.Pro566Leu
XM_011514300.1:c.1517C>T	XP_011512602.1:p.Pro506Leu
XM_011514301.1:c.1454C>T	XP_011512603.1:p.Pro485Leu
XM_011514302.1:c.1298C>T	XP_011512604.1:p.Pro433Leu
XM_011514299.2:c.1697C>T	XP_011512601.1:p.Pro566Leu
XM_011514300.2:c.1517C>T	XP_011512602.1:p.Pro506Leu
XM_011514302.2:c.1298C>T	XP_011512604.1:p.Pro433Leu
XM_017010250.1:c.2411C>T	XP_016865739.1:p.Pro804Leu
XM_017010251.2:c.1229C>T	XP_016865740.1:p.Pro410Leu
NM_080680.3:c.2411C>T MANE Select	NP_542411.2:p.Pro804Leu
NM_080681.3:c.2153C>T	NP_542412.2:p.Pro718Leu
NM_080679.3:c.2090C>T	NP_542410.2:p.Pro697Leu