Canonical Allele Identifier: CA363644227

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33174547-G-T
• MyVariant Identifiers: chr6:g.33142324G>T (hg19) ; chr6:g.33174547G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174547G>T , CM000668.2:g.33174547G>T	GRCh38
NC_000006.11:g.33142324G>T , CM000668.1:g.33142324G>T	GRCh37
NC_000006.10:g.33250302G>T	NCBI36
NG_011589.1:g.22922C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361917.6:c.983C>A
ENST00000341947.7:c.2410C>A MANE Select	ENSP00000339915.2:p.Pro804Thr
ENST00000341947.6:c.2410C>A	ENSP00000339915.2:p.Pro804Thr
ENST00000361917.5:c.2089C>A	ENSP00000355123.1:p.Pro697Thr
ENST00000374708.8:c.2152C>A	ENSP00000363840.4:p.Pro718Thr
ENST00000477772.1:n.272+2462C>A
NM_080679.2:c.2089C>A	NP_542410.2:p.Pro697Thr
NM_080680.2:c.2410C>A	NP_542411.2:p.Pro804Thr
NM_080681.2:c.2152C>A	NP_542412.2:p.Pro718Thr
XM_011514298.1:c.1564C>A	XP_011512600.1:p.Pro522Thr
XM_011514299.1:c.1696C>A	XP_011512601.1:p.Pro566Thr
XM_011514300.1:c.1516C>A	XP_011512602.1:p.Pro506Thr
XM_011514301.1:c.1453C>A	XP_011512603.1:p.Pro485Thr
XM_011514302.1:c.1297C>A	XP_011512604.1:p.Pro433Thr
XM_011514299.2:c.1696C>A	XP_011512601.1:p.Pro566Thr
XM_011514300.2:c.1516C>A	XP_011512602.1:p.Pro506Thr
XM_011514302.2:c.1297C>A	XP_011512604.1:p.Pro433Thr
XM_017010250.1:c.2410C>A	XP_016865739.1:p.Pro804Thr
XM_017010251.2:c.1228C>A	XP_016865740.1:p.Pro410Thr
NM_080680.3:c.2410C>A MANE Select	NP_542411.2:p.Pro804Thr
NM_080681.3:c.2152C>A	NP_542412.2:p.Pro718Thr
NM_080679.3:c.2089C>A	NP_542410.2:p.Pro697Thr