Canonical Allele Identifier: CA363617914

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164959-A-G
• MyVariant Identifiers: chr6:g.33132736A>G (hg19) ; chr6:g.33164959A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164959A>G , CM000668.2:g.33164959A>G	GRCh38
NC_000006.11:g.33132736A>G , CM000668.1:g.33132736A>G	GRCh37
NC_000006.10:g.33240714A>G	NCBI36
NG_011589.1:g.32510T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.562T>C
ENST00000341947.7:c.4756T>C MANE Select	ENSP00000339915.2:p.Tyr1586His
ENST00000341947.6:c.4756T>C	ENSP00000339915.2:p.Tyr1586His
ENST00000361917.5:c.4435T>C	ENSP00000355123.1:p.Tyr1479His
ENST00000374708.8:c.4498T>C	ENSP00000363840.4:p.Tyr1500His
ENST00000477772.1:n.546T>C
NM_080679.2:c.4435T>C	NP_542410.2:p.Tyr1479His
NM_080680.2:c.4756T>C	NP_542411.2:p.Tyr1586His
NM_080681.2:c.4498T>C	NP_542412.2:p.Tyr1500His
XM_011514298.1:c.3910T>C	XP_011512600.1:p.Tyr1304His
XM_011514299.1:c.4042T>C	XP_011512601.1:p.Tyr1348His
XM_011514300.1:c.3862T>C	XP_011512602.1:p.Tyr1288His
XM_011514301.1:c.3799T>C	XP_011512603.1:p.Tyr1267His
XM_011514302.1:c.3643T>C	XP_011512604.1:p.Tyr1215His
XM_011514299.2:c.4042T>C	XP_011512601.1:p.Tyr1348His
XM_011514300.2:c.3862T>C	XP_011512602.1:p.Tyr1288His
XM_011514302.2:c.3643T>C	XP_011512604.1:p.Tyr1215His
XM_017010250.1:c.4756T>C	XP_016865739.1:p.Tyr1586His
XM_017010251.2:c.3574T>C	XP_016865740.1:p.Tyr1192His
NM_080680.3:c.4756T>C MANE Select	NP_542411.2:p.Tyr1586His
NM_080681.3:c.4498T>C	NP_542412.2:p.Tyr1500His
NM_080679.3:c.4435T>C	NP_542410.2:p.Tyr1479His