Canonical Allele Identifier: CA365635450

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129507497T>A , CM000668.2:g.129507497T>A	GRCh38
NC_000006.11:g.129828642T>A , CM000668.1:g.129828642T>A	GRCh37
NC_000006.10:g.129870335T>A	NCBI36
NG_008678.1:g.629357T>A , LRG_409:g.629357T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.8712T>A MANE Select	NP_000417.3:p.Tyr2904Ter
ENST00000421865.3:c.8712T>A MANE Select	ENSP00000400365.2:p.Tyr2904Ter
NM_000426.3:c.8712T>A , LRG_409t1:c.8712T>A	NP_000417.2:p.Tyr2904Ter
NM_001079823.1:c.8700T>A	NP_001073291.1:p.Tyr2900Ter
NM_001079823.2:c.8700T>A	NP_001073291.2:p.Tyr2900Ter
ENST00000421865.2:c.8712T>A	ENSP00000400365.2:p.Tyr2904Ter
ENST00000494137.2:c.777T>A	ENSP00000510626.1:p.Tyr259Ter
ENST00000498257.6:c.777T>A	ENSP00000510533.1:p.Tyr259Ter
ENST00000617695.4:c.8700T>A	ENSP00000481744.1:p.Tyr2900Ter
ENST00000617695.5:c.8700T>A	ENSP00000481744.2:p.Tyr2900Ter
ENST00000618192.4:c.8709T>A	ENSP00000480802.1:p.Tyr2903Ter
ENST00000618192.5:c.8976T>A	ENSP00000480802.2:p.Tyr2992Ter
ENST00000688198.1:n.1690T>A
ENST00000688799.1:c.777T>A	ENSP00000508458.1:p.Tyr259Ter
ENST00000690858.1:n.1706T>A
ENST00000693461.1:n.1049T>A
XM_005266981.2:c.8976T>A	XP_005267038.1:p.Tyr2992Ter
XM_005266981.3:c.8976T>A	XP_005267038.1:p.Tyr2992Ter
XM_005266982.2:c.8964T>A	XP_005267039.1:p.Tyr2988Ter
XM_005266982.3:c.8964T>A	XP_005267039.1:p.Tyr2988Ter
XM_011535820.1:c.8970T>A	XP_011534122.1:p.Tyr2990Ter
XM_011535820.2:c.8970T>A	XP_011534122.1:p.Tyr2990Ter
XM_017010851.2:c.8982T>A	XP_016866340.1:p.Tyr2994Ter
XM_017010852.1:c.7107T>A	XP_016866341.1:p.Tyr2369Ter
XR_001743859.1:n.3901-4706A>T
XR_001743860.1:n.1180-4706A>T
XR_001743861.1:n.1347-4706A>T
XR_001743863.1:n.883-4706A>T
XR_002956395.1:n.9132-4706A>T
XR_002956396.1:n.3127-4706A>T
XR_942984.1:n.1461-4706A>T
XR_942985.1:n.1325-4706A>T