Canonical Allele Identifier: CA363617869

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 2757744
• ClinVar RCV Id: RCV003569357
• dbSNP Id: rs1471622578
• gnomAD v2: 6-33132732-C-T
• gnomAD v4: 6-33164955-C-T
• MyVariant Identifiers: chr6:g.33132732C>T (hg19) ; chr6:g.33164955C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164955C>T , CM000668.2:g.33164955C>T	GRCh38
NC_000006.11:g.33132732C>T , CM000668.1:g.33132732C>T	GRCh37
NC_000006.10:g.33240710C>T	NCBI36
NG_011589.1:g.32514G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.566G>A
ENST00000341947.7:c.4760G>A MANE Select	ENSP00000339915.2:p.Trp1587Ter
ENST00000341947.6:c.4760G>A	ENSP00000339915.2:p.Trp1587Ter
ENST00000361917.5:c.4439G>A	ENSP00000355123.1:p.Trp1480Ter
ENST00000374708.8:c.4502G>A	ENSP00000363840.4:p.Trp1501Ter
ENST00000477772.1:n.550G>A
NM_080679.2:c.4439G>A	NP_542410.2:p.Trp1480Ter
NM_080680.2:c.4760G>A	NP_542411.2:p.Trp1587Ter
NM_080681.2:c.4502G>A	NP_542412.2:p.Trp1501Ter
XM_011514298.1:c.3914G>A	XP_011512600.1:p.Trp1305Ter
XM_011514299.1:c.4046G>A	XP_011512601.1:p.Trp1349Ter
XM_011514300.1:c.3866G>A	XP_011512602.1:p.Trp1289Ter
XM_011514301.1:c.3803G>A	XP_011512603.1:p.Trp1268Ter
XM_011514302.1:c.3647G>A	XP_011512604.1:p.Trp1216Ter
XM_011514299.2:c.4046G>A	XP_011512601.1:p.Trp1349Ter
XM_011514300.2:c.3866G>A	XP_011512602.1:p.Trp1289Ter
XM_011514302.2:c.3647G>A	XP_011512604.1:p.Trp1216Ter
XM_017010250.1:c.4760G>A	XP_016865739.1:p.Trp1587Ter
XM_017010251.2:c.3578G>A	XP_016865740.1:p.Trp1193Ter
NM_080680.3:c.4760G>A MANE Select	NP_542411.2:p.Trp1587Ter
NM_080681.3:c.4502G>A	NP_542412.2:p.Trp1501Ter
NM_080679.3:c.4439G>A	NP_542410.2:p.Trp1480Ter