Canonical Allele Identifier: CA2518825396

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33185671-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33185671G>T , CM000668.2:g.33185671G>T	GRCh38
NC_000006.11:g.33153448G>T , CM000668.1:g.33153448G>T	GRCh37
NC_000006.10:g.33261426G>T	NCBI36
NG_011589.1:g.11798C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682718.1:n.693+30C>A
ENST00000341947.7:c.876+30C>A MANE Select	ENSP00000339915.2:n.876+30C>A
ENST00000341947.6:c.876+30C>A	ENSP00000339915.2:n.876+30C>A
ENST00000361917.5:c.798+956C>A	ENSP00000355123.1:n.798+956C>A
ENST00000374708.8:c.799-617C>A	ENSP00000363840.4:n.799-617C>A
ENST00000457788.5:c.876+30C>A	ENSP00000405520.1:n.876+30C>A
NM_080679.2:c.798+956C>A	NP_542410.2:n.798+956C>A
NM_080680.2:c.876+30C>A	NP_542411.2:n.876+30C>A
NM_080681.2:c.799-617C>A	NP_542412.2:n.799-617C>A
XM_011514298.1:c.30+30C>A	XP_011512600.1:n.30+30C>A
XM_011514299.1:c.-226C>A	XP_011512601.1:n.-226C>A
XM_011514300.1:c.-226C>A	XP_011512602.1:n.-226C>A
XM_011514301.1:c.-226C>A	XP_011512603.1:n.-226C>A
XM_011514299.2:c.-226C>A	XP_011512601.1:n.-226C>A
XM_011514300.2:c.-226C>A	XP_011512602.1:n.-226C>A
XM_017010250.1:c.876+30C>A	XP_016865739.1:n.876+30C>A
NM_080680.3:c.876+30C>A MANE Select	NP_542411.2:n.876+30C>A
NM_080681.3:c.799-617C>A	NP_542412.2:n.799-617C>A
NM_080679.3:c.798+956C>A	NP_542410.2:n.798+956C>A