Canonical Allele Identifier: CA363615082

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33192234-G-A
• MyVariant Identifiers: chr6:g.33160011G>A (hg19) ; chr6:g.33192234G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33192234G>A , CM000668.2:g.33192234G>A	GRCh38
NC_000006.11:g.33160011G>A , CM000668.1:g.33160011G>A	GRCh37
NC_000006.10:g.33267989G>A	NCBI36
NG_011589.1:g.5235C>T
NG_023374.1:g.13422C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.7C>T MANE Select	ENSP00000339915.2:p.Arg3Trp
ENST00000341947.6:c.7C>T	ENSP00000339915.2:p.Arg3Trp
ENST00000361917.5:c.7C>T	ENSP00000355123.1:p.Arg3Trp
ENST00000374708.8:c.7C>T	ENSP00000363840.4:p.Arg3Trp
ENST00000395194.1:c.7C>T	ENSP00000378620.1:p.Arg3Trp
ENST00000457788.5:c.7C>T	ENSP00000405520.1:p.Arg3Trp
NM_001163771.1:c.7C>T	NP_001157243.1:p.Arg3Trp
NM_080679.2:c.7C>T	NP_542410.2:p.Arg3Trp
NM_080680.2:c.7C>T	NP_542411.2:p.Arg3Trp
NM_080681.2:c.7C>T	NP_542412.2:p.Arg3Trp
XM_011514298.1:c.-765+791C>T	XP_011512600.1:n.-765+791C>T
XM_017010250.1:c.7C>T	XP_016865739.1:p.Arg3Trp
NM_001163771.2:c.7C>T	NP_001157243.1:p.Arg3Trp
NM_080680.3:c.7C>T MANE Select	NP_542411.2:p.Arg3Trp
NM_080681.3:c.7C>T	NP_542412.2:p.Arg3Trp
NM_080679.3:c.7C>T	NP_542410.2:p.Arg3Trp