Canonical Allele Identifier: CA1653124

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs577320550
• ExAC: 2:48921381 T / G
• gnomAD v2: 2-48921381-T-G
• gnomAD v3: 2-48694242-T-G
• gnomAD v4: 2-48694242-T-G
• COSMIC: COSM1408393
• MyVariant Identifiers: chr2:g.48921381T>G (hg19) ; chr2:g.48694242T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48694242T>G , CM000664.2:g.48694242T>G	GRCh38
NC_000002.11:g.48921381T>G , CM000664.1:g.48921381T>G	GRCh37
NC_000002.10:g.48774885T>G	NCBI36
NG_008193.1:g.66500A>C
NG_033050.1:g.169318T>G
NG_008193.2:g.66500A>C
NG_033050.2:g.169318T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.929A>C (LHCGR) MANE Select	ENSP00000294954.6:p.Lys310Thr
ENST00000294954.11:c.929A>C (LHCGR)	ENSP00000294954.6:p.Lys310Thr
ENST00000401907.5:c.929A>C (LHCGR)	ENSP00000385406.1:p.Lys310Thr
ENST00000402114.6:c.3441+22562T>G (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+22562T>G
ENST00000403273.5:c.929A>C (LHCGR)	ENSP00000385847.1:p.Lys310Thr
ENST00000405626.5:c.866+4373A>C (LHCGR)	ENSP00000386033.1:n.866+4373A>C
ENST00000508440.1:c.276+22562T>G (GTF2A1L)	ENSP00000421474.1:n.276+22562T>G
ENST00000602369.3:c.*202A>C	ENSP00000473498.1:n.*202A>C
NM_000233.3:c.929A>C (LHCGR)	NP_000224.2:p.Lys310Thr
NM_001198593.1:c.3441+22562T>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+22562T>G
XM_005264309.2:c.-12A>C (LHCGR)	XP_005264366.1:n.-12A>C
XM_011532828.1:c.854A>C (LHCGR)	XP_011531130.1:p.Lys285Thr
XM_011532829.1:c.668A>C (LHCGR)	XP_011531131.1:p.Lys223Thr
XM_011532830.1:c.606-5393A>C (LHCGR)	XP_011531132.1:n.606-5393A>C
XM_011532831.1:c.293A>C (LHCGR)	XP_011531133.1:p.Lys98Thr
XM_005264309.3:c.-12A>C (LHCGR)	XP_005264366.1:n.-12A>C
XM_017004089.1:c.674A>C (LHCGR)	XP_016859578.1:p.Lys225Thr
XM_017004090.1:c.293A>C (LHCGR)	XP_016859579.1:p.Lys98Thr
NM_000233.4:c.929A>C (LHCGR) MANE Select	NP_000224.2:p.Lys310Thr
NM_001198593.2:c.3441+22562T>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+22562T>G