Canonical Allele Identifier: CA2678231552

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33192247-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33192247G>T , CM000668.2:g.33192247G>T	GRCh38
NC_000006.11:g.33160024G>T , CM000668.1:g.33160024G>T	GRCh37
NC_000006.10:g.33268002G>T	NCBI36
NG_011589.1:g.5222C>A
NG_023374.1:g.13409C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000341947.7:c.-7C>A MANE Select	ENSP00000339915.2:n.-7C>A
ENST00000341947.6:c.-7C>A	ENSP00000339915.2:n.-7C>A
ENST00000361917.5:c.-7C>A	ENSP00000355123.1:n.-7C>A
ENST00000374708.8:c.-7C>A	ENSP00000363840.4:n.-7C>A
ENST00000395194.1:c.-7C>A	ENSP00000378620.1:n.-7C>A
ENST00000457788.5:c.-7C>A	ENSP00000405520.1:n.-7C>A
NM_001163771.1:c.-7C>A	NP_001157243.1:n.-7C>A
NM_080679.2:c.-7C>A	NP_542410.2:n.-7C>A
NM_080680.2:c.-7C>A	NP_542411.2:n.-7C>A
NM_080681.2:c.-7C>A	NP_542412.2:n.-7C>A
XM_011514298.1:c.-765+778C>A	XP_011512600.1:n.-765+778C>A
XM_017010250.1:c.-7C>A	XP_016865739.1:n.-7C>A
NM_001163771.2:c.-7C>A	NP_001157243.1:n.-7C>A
NM_080680.3:c.-7C>A MANE Select	NP_542411.2:n.-7C>A
NM_080681.3:c.-7C>A	NP_542412.2:n.-7C>A
NM_080679.3:c.-7C>A	NP_542410.2:n.-7C>A