Canonical Allele Identifier: CA3750410

Gene: COL11A2

Linked Data

• dbSNP Id: rs540252944
• ExAC: 6:33137571 G / A
• gnomAD v2: 6-33137571-G-A
• gnomAD v3: 6-33169794-G-A
• gnomAD v4: 6-33169794-G-A
• MyVariant Identifiers: chr6:g.33137571G>A (hg19) ; chr6:g.33169794G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33169794G>A , CM000668.2:g.33169794G>A	GRCh38
NC_000006.11:g.33137571G>A , CM000668.1:g.33137571G>A	GRCh37
NC_000006.10:g.33245549G>A	NCBI36
NG_011589.1:g.27675C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3690+37C>T MANE Select	ENSP00000339915.2:n.3690+37C>T
ENST00000341947.6:c.3690+37C>T	ENSP00000339915.2:n.3690+37C>T
ENST00000361917.5:c.3369+37C>T	ENSP00000355123.1:n.3369+37C>T
ENST00000374708.8:c.3432+37C>T	ENSP00000363840.4:n.3432+37C>T
ENST00000477772.1:n.273-3978C>T
NM_080679.2:c.3369+37C>T	NP_542410.2:n.3369+37C>T
NM_080680.2:c.3690+37C>T	NP_542411.2:n.3690+37C>T
NM_080681.2:c.3432+37C>T	NP_542412.2:n.3432+37C>T
XM_011514298.1:c.2844+37C>T	XP_011512600.1:n.2844+37C>T
XM_011514299.1:c.2976+37C>T	XP_011512601.1:n.2976+37C>T
XM_011514300.1:c.2796+37C>T	XP_011512602.1:n.2796+37C>T
XM_011514301.1:c.2733+37C>T	XP_011512603.1:n.2733+37C>T
XM_011514302.1:c.2577+37C>T	XP_011512604.1:n.2577+37C>T
XM_011514299.2:c.2976+37C>T	XP_011512601.1:n.2976+37C>T
XM_011514300.2:c.2796+37C>T	XP_011512602.1:n.2796+37C>T
XM_011514302.2:c.2577+37C>T	XP_011512604.1:n.2577+37C>T
XM_017010250.1:c.3690+37C>T	XP_016865739.1:n.3690+37C>T
XM_017010251.2:c.2508+37C>T	XP_016865740.1:n.2508+37C>T
NM_080680.3:c.3690+37C>T MANE Select	NP_542411.2:n.3690+37C>T
NM_080681.3:c.3432+37C>T	NP_542412.2:n.3432+37C>T
NM_080679.3:c.3369+37C>T	NP_542410.2:n.3369+37C>T