Canonical Allele Identifier: CA365631593

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129492427C>T , CM000668.2:g.129492427C>T	GRCh38
NC_000006.11:g.129813572C>T , CM000668.1:g.129813572C>T	GRCh37
NC_000006.10:g.129855265C>T	NCBI36
NG_008678.1:g.614287C>T , LRG_409:g.614287C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.8188C>T MANE Select	NP_000417.3:p.Gln2730Ter
ENST00000421865.3:c.8188C>T MANE Select	ENSP00000400365.2:p.Gln2730Ter
NM_000426.3:c.8188C>T , LRG_409t1:c.8188C>T	NP_000417.2:p.Gln2730Ter
NM_001079823.1:c.8176C>T	NP_001073291.1:p.Gln2726Ter
NM_001079823.2:c.8176C>T	NP_001073291.2:p.Gln2726Ter
ENST00000421865.2:c.8188C>T	ENSP00000400365.2:p.Gln2730Ter
ENST00000494137.1:n.350C>T
ENST00000494137.2:c.253C>T	ENSP00000510626.1:p.Gln85Ter
ENST00000498257.5:n.501C>T
ENST00000498257.6:c.253C>T	ENSP00000510533.1:p.Gln85Ter
ENST00000617695.4:c.8176C>T	ENSP00000481744.1:p.Gln2726Ter
ENST00000617695.5:c.8176C>T	ENSP00000481744.2:p.Gln2726Ter
ENST00000618192.4:c.8185C>T	ENSP00000480802.1:p.Gln2729Ter
ENST00000618192.5:c.8452C>T	ENSP00000480802.2:p.Gln2818Ter
ENST00000688198.1:n.1166C>T
ENST00000688799.1:c.253C>T	ENSP00000508458.1:p.Gln85Ter
ENST00000690858.1:n.1182C>T
XM_005266981.2:c.8452C>T	XP_005267038.1:p.Gln2818Ter
XM_005266981.3:c.8452C>T	XP_005267038.1:p.Gln2818Ter
XM_005266982.2:c.8440C>T	XP_005267039.1:p.Gln2814Ter
XM_005266982.3:c.8440C>T	XP_005267039.1:p.Gln2814Ter
XM_011535820.1:c.8446C>T	XP_011534122.1:p.Gln2816Ter
XM_011535820.2:c.8446C>T	XP_011534122.1:p.Gln2816Ter
XM_017010851.2:c.8458C>T	XP_016866340.1:p.Gln2820Ter
XM_017010852.1:c.6583C>T	XP_016866341.1:p.Gln2195Ter